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1.
Clin Genet ; 2020 Nov 09.
Artigo em Inglês | MEDLINE | ID: mdl-33169370

RESUMO

Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinitis pigmentosa, obesity, polydactyly, cognitive impairment and renal failure. Pathogenic variants in 24 genes account for the molecular basis of >80% of cases. Toward saturated discovery of the mutational basis of the disorder, we carefully explored our cohorts and identified a hominid-specific SINE-R/VNTR/Alu type F (SVA-F) insertion in exon 13 of BBS1 in eight families. In six families, the repeat insertion was found in trans with c.1169 T > G, p.Met390Arg and in two families the insertion was found in addition to other recessive BBS loci. Whole genome sequencing, de novo assembly and SNP array analysis were performed to characterize the genomic event. This insertion is extremely rare in the general population (found in 8 alleles of 8 BBS cases but not in >10 800 control individuals from gnomAD-SV) and due to a founder effect. Its 2435 bp sequence contains hallmarks of LINE1 mediated retrotransposition. Functional studies with patient-derived cell lines confirmed that the BBS1 SVA-F is deleterious as evidenced by a significant depletion of both mRNA and protein levels. Such findings highlight the importance of dedicated bioinformatics pipelines to identify all types of variation.

2.
Genet Med ; 2020 Oct 27.
Artigo em Inglês | MEDLINE | ID: mdl-33106617

RESUMO

PURPOSE: Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA, and more rarely in PPP2R1A. Here, we aimed to better understand the latter by characterizing 30 individuals with de novo and often recurrent variants in this PP2A scaffolding Aα subunit. METHODS: Most cases were identified through routine clinical diagnostics. Variants were biochemically characterized for phosphatase activity and interaction with other PP2A subunits. RESULTS: We describe 30 individuals with 16 different variants in PPP2R1A, 21 of whom had variants not previously reported. The severity of developmental delay ranged from mild learning problems to severe intellectual disability (ID) with or without epilepsy. Common features were language delay, hypotonia, and hypermobile joints. Macrocephaly was only seen in individuals without B55α subunit-binding deficit, and these patients had less severe ID and no seizures. Biochemically more disruptive variants with impaired B55α but increased striatin binding were associated with profound ID, epilepsy, corpus callosum hypoplasia, and sometimes microcephaly. CONCLUSION: We significantly expand the phenotypic spectrum of PPP2R1A-related NDD, revealing a broader clinical presentation of the patients and that the functional consequences of the variants are more diverse than previously reported.

3.
Cleft Palate Craniofac J ; : 1055665620954090, 2020 Oct 16.
Artigo em Inglês | MEDLINE | ID: mdl-33063524

RESUMO

This case series is a follow-up report focusing on dental and facial characteristics in patients with a rare microdeletion in chromosome 14q22.1-q22.2. Usually, these patients have severe ocular, brain, and digital abnormalities. However, this case series shows that clinical presentation can be mild. Four relatives spanning 3 generations were diagnosed with a familial autosomal dominant 2.79 Mb microdeletion in chromosome 14q22.1-q22.2. Genetic screening was done by the Bacterial Artificial Chromosome array-comparative genome hybridization and was confirmed by the fluorescence in situ hybridization technique. Dental and craniofacial data were collected from medical files, clinical examinations, clinical photos, panoramic and cephalometric radiographs, and dental casts. Written informed consent for scientific use was obtained for all family members. No larger syndrome could be identified. All cases had similar facial red flag characteristics, consisting of a long face with retrognathia and open mouth relation, associated oral clefts in varying degrees, depressed nasal bridge, delayed tooth development, hypertelorism, and low-set angular ears. The dental casts showed a distal molar occlusion and a lack of space in the dental arches. Developmental delay was noted together with limb defects such as poly- and syndactyly. Microphthalmia and hearing loss were present in the most severe cases. This rare congenital disorder, associated with facial dysmorphia, oral clefts, and tooth agenesis, can remain undiagnosed until adulthood. A family history of short stature, developmental delay, poly- or syndactyly, and micropthalmia are suggestive features. Similar reports help to raise awareness among dental practitioners, leading to an early genetic diagnosis.

4.
Eur J Med Genet ; 63(11): 104009, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32758660

RESUMO

Interstitial 19q13.11 deletions are associated with ectrodactyly, which has recently been linked to loss-of-function of the UBA2 gene. We report a boy with a de novo frameshift mutation in UBA2 (c.612delA (p.(Glu205Lysfs*63)), presenting with ectrodactyly of the feet associated with learning difficulties and minor physical anomalies. We review genotype-phenotype correlations in patients with chromosomal 19q13.11 microdeletions compared to those with intragenic UBA2 mutations.

5.
Birth Defects Res ; 112(16): 1287-1291, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32639113

RESUMO

BACKGROUND: Agnathia otocephaly is a rare craniofacial malformation complex characterised by absent/hypoplastic mandible, abnormally positioned ears meeting at level of neck. Besides mutations in two genes, PRRX1 and OTX2, a teratogenic cause has been suggested. A higher risk of congenital malformations has been associated with paternal work in mining in the Democratic Republic of the Congo's part of the Copperbelt. CASE: We studied a female neonate with a clinical diagnosis of agnathia otocephaly, stillborn in Lubumbashi in 2019. The child's father had been working as an artisanal mineworker at the time of conception. RESULTS: Genetic analysis did not reveal a causal mutation. The concentrations of cobalt, arsenic cadmium, and uranium in cord blood of the infant were much higher than those of normal neonates from a previous study. CONCLUSION: In the absence of identified genetic causes, we hypothesize this case of agnathia otocephaly was related to an exogenous cause, possibly the father's mining-related job.

6.
J Clin Endocrinol Metab ; 105(12)2020 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-32685970

RESUMO

PURPOSE: In a significant proportion of children born small for gestational age (SGA) with failure of catch-up growth, the etiology of short stature remains unclear after routine diagnostic workup. We wanted to investigate if extensive analysis of the (epi)genome can unravel the cause of growth failure in a significant portion of these children. PATIENTS AND METHODS: Twenty SGA children treated with GH because of short stature were selected from the BELGROW database of the Belgian Society for Pediatric Endocrinology and Diabetology for exome sequencing, single-nucleotide polymorphism (SNP) array and genome-wide methylation analysis to identify the (epi)genetic cause. First-year response to GH was compared with the response of SGA patients in the KIGS database. RESULTS: We identified (likely) pathogenic variants in 4 children (from 3 families) using exome sequencing and found pathogenic copy number variants in 2 probands using SNP array. In a child harboring a NSD1-containing microduplication, we identified a DNA methylation signature that is opposite to the genome-wide DNA methylation signature of Sotos syndrome. Moreover, we observed multilocus imprinting disturbances in 2 children in whom no other genomic alteration could be identified. Five of 6 children with a genetic diagnosis had an "above average" response to GH. CONCLUSIONS: The study indicates that a more advanced approach with deep genotyping can unravel unexpected (epi)genomic alterations in SGA children with persistent growth failure. Most SGA children with a genetic diagnosis had a good response to GH treatment.

7.
Prenat Diagn ; 2020 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-32436253

RESUMO

OBJECTIVE: Belgian genetic centers established a database containing data on all chromosomal microarrays performed in a prenatal context. A study was initiated to evaluate postnatal development in children diagnosed prenatally with a non-benign copy number variant (CNV). METHODS: All children diagnosed with a prenatally detected non-benign CNV in a Belgian genetic center between May 2013 and February 2015 were included in the patient population. The control population consisted of children who had undergone an invasive procedure during pregnancy, with no or only benign CNVs. Child development was evaluated at 36 months using three (3) questionnaires: Ages and Stages Questionnaire Third edition, Ages and Stages Questionnaire Social-Emotional Second Edition and a general questionnaire. RESULTS: A significant difference in communication and personal-social development was detected between children with a reported susceptibility CNV and both children with an unreported susceptibility CNV and the control population. The outcome of children with a particular CNV is discussed in a case-by-case manner. CONCLUSION: Our postnatal follow-up project of children with a prenatally detected non-benign CNV is the first nationwide project of its kind. A higher number of cases for each CNV category is however needed to confirm our findings.

8.
Artigo em Inglês | MEDLINE | ID: mdl-32406590

RESUMO

Sotos syndrome is a widely studied overgrowth syndrome. Clinical presentation includes excessive growth during childhood, macrocephaly, learning difficulties of various degrees, variable minor features, and distinctive facial gestalt. We provide in this report the first phenotypic and growth description of Sotos syndrome in a patient from Central Africa. At 6 month the patient exhibited axial hypotonia, delayed speech development and dysmorphism including long face, sparse eyebrows, hypertelorism, malar hypoplasia and dark flushing, short philtrum, depressed nasal root, anteverted nares, thick upper and lower lip vermilions, macroglossia, prominent forehead, large and peculiar ears, wide intermammillary distance, deep palmar creases, dysplastic finger nails, partial syndactyly of toes, broad, and overlapping hallux. At 19 months, malar flushing became reddish and a retraction of the middle of the lower lip was observed, resembling a bifid lip. He retained the same clinical features at 31 months. Head circumference, weight, and height where within normal ranges at birth but became all above 97th centiles at 4 months. The height velocity evolved in three phases starting with a very fast growth from birth to 6 months (54 cm/year), then a fast phase from 6 to 16 months (18 cm/year) and a slow phase from 16 to 31 months (4.8 cm/year). Conversely, the patient exhibited an acceleration of weight after the first year of life. Our patient exhibited very prominent lips and deep philtrum, which are common facial traits in African individuals. The current report shows an admixture of ethnic-specific features with syndrome-specific features in an African patient.

9.
Eur J Med Genet ; 63(5): 103875, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32058062

RESUMO

The application of next-generation sequencing to fetal pathology has proved to increase the diagnostic yield in fetuses with abnormal ultrasounds. We retrospectively reviewed genetic data of 30 selected cases studied through targeted resequencing of OMIM genes. In our experience, clinical data proved to be essential to support diagnostic reasoning and enhance variants' assessment. The molecular diagnosis was reached in 19/30 (63%) cases. Only in 7/19 cases the molecular diagnosis confirmed the initial diagnostic hypothesis, showing the relevance of the genotype-first approach. According to the genotype-phenotype correlation, we were able to divide the solved cases into three groups: i) the correlation is well established but it was missed due to lack of specificity, unusual presentation or recent description; ii) the clinical presentation is much more severe than currently known for the underlying condition; iii) the correlation does not recapitulate the entire phenotype, possibly due to the fetal presentation or multiple coexisting conditions. Moreover, we found a higher proportion of recessive diagnosis in abnormal fetuses compared to cohorts of individuals with developmental delay. Our findings suggest that fetal pathology may be enriched in rare alleles and/or in unusual combinations, counter-selected in postnatal genomes and thus contributing to both phenotypic extremeness and atypical presentation.

10.
J Med Genet ; 57(5): 347-355, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-31932357

RESUMO

BACKGROUND: Intragenic NRXN1 deletions are susceptibility variants for neurodevelopmental disorders; however, their clinical interpretation is often unclear. Therefore, a literature study and an analysis of 43 previously unpublished deletions are provided. METHODS: The literature cohort covered 629 heterozygous NRXN1 deletions: 148 in controls, 341 in probands and 140 in carrier relatives, and was used for clinical hypothesis testing. Exact breakpoint determination was performed for 43 in-house deletions. RESULTS: The prevalence of exonic NRXN1 deletions in controls was ~1/3000 as compared with ~1/800 in patients with neurodevelopmental/neuropsychiatric disorders. The differential distribution of deletions across the gene between controls and probands allowed to distinguish distinct areas within the gene. Exon 6-24 deletions appeared only twice in over 100000 control individuals, had an estimated penetrance for neurodevelopmental disorders of 32.43%, a de novo rate of 50% and segregated mainly with intellectual disability (ID) and schizophrenia. In contrast, exon 1-5 deletions appeared in 20 control individuals, had an estimated penetrance of 12.59%, a de novo rate of 32.5% and were reported with a broad range of neurodevelopmental phenotypes. Exact breakpoint determination revealed six recurrent intron 5 deletions. CONCLUSION: Exon 6-24 deletions have a high penetrance and are mainly associated with ID and schizophrenia. In contrast, the actual contribution of exon 1-5 deletions to a neurodevelopmental/neuropsychiatric disorder in an individual patient and family remains very difficult to assess. To enhance the clinical interpretation, this study provides practical considerations for counselling and an interactive table for comparing a deletion of interest with the available literature data.

11.
Artigo em Inglês | MEDLINE | ID: mdl-31912658

RESUMO

The evaluation of minor physical variation is crucial in a dysmorphological examination. Currently, data on the spectrum and incidence of minor physical variants in Central African newborns is lacking. We therefore conducted a cross-sectional descriptive study of 722 newborns recruited within the first 24 hr of life, in two large maternities in Kinshasa, DR Congo. Minor anomalies were defined according to the series of articles in AJMG Part A and coded as human phenotype ontology terms. A total of 97 different morphological variants were recorded of which 13 were common. About 34.8% of the newborn carried one minor anomaly, 11.6% had two, and 4.3% had three minor anomalies. No gender differences were observed, but the incidence of specific anomalies appeared to vary with the geographical origin of parents within the DR Congo. The results of this study will aid clinicians to interpret morphological variation in Central African newborns.

12.
Retin Cases Brief Rep ; 14(1): 77-81, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-28820764

RESUMO

PURPOSE: To characterize the ocular features of a severe case of renal coloboma syndrome in a long-term follow-up. METHODS: Observational case report over a period of 45 years. Examination under anesthesia at the age of 3 months, repeated ophthalmologic examination (age 7, 14, 25, 45 years), fluorescein and indocyanine green angiography, electroretinography, ocular ultrasound, optical coherence tomography, computed tomography scan orbits, and magnetic resonance imaging of the brain. RESULTS: Presentation with severe bilateral posterior eye defects, optic nerve aplasia and a retrobulbar cyst in the left eye, renal abnormalities, and mental retardation. Over time, a progressive axial myopia in the right eye, band keratopathy in the left eye, and progressive bilateral posterior lens opacities were noted. There was only a minor decrease in visual acuity and visual field of the only functional right eye. The mother of this patient had a mild optic disk hypoplasia, progressive lens opacities, and late-onset renal disease. Both had a confirmed mutation in exon 2 of the PAX2 gene. CONCLUSION: This first published long-term follow-up of renal coloboma syndrome shows progressive posterior lens opacities, axial myopia, and band keratopathy with only a small decline in visual function over time.

13.
Clin Dysmorphol ; 29(1): 24-27, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30946036

RESUMO

Microdeletion of the entire interferon regulatory factory 6 (IRF 6) gene is a rare cause of Van der Woude syndrome (VDW) with only few cases reported in medical literature. Its occurrence in multiple affected members of a family is exceptional. The aim of this presentation was to describe a Central African family with typical VDW phenotype carrying an IRF6 gene deletion. Here we reported phenotype features of members of a Central African family with VDW syndrome consisting of labioalveolar cleft, depressions of the lower lip with labial fistulae (lip pits), submucosal clefts and cleft palate. Mutation analysis by means of multiplex ligation-dependent probe amplification and chromosomal microarray revealed a 374.070 kb, deletion encompassing the entire IRF6 gene in four affected family members. Microdeletion of the entire IRF6 gene causes the classical VDW syndrome phenotype.


Assuntos
Anormalidades Múltiplas , Fenda Labial , Fissura Palatina , Cistos , Família , Deleção de Genes , Fatores Reguladores de Interferon/deficiência , Lábio/anormalidades , Linhagem , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Pré-Escolar , Fenda Labial/genética , Fenda Labial/patologia , Fissura Palatina/genética , Fissura Palatina/patologia , Cistos/genética , Cistos/patologia , República Democrática do Congo , Feminino , Humanos , Lábio/patologia , Masculino
14.
Hum Mutat ; 2019 Oct 23.
Artigo em Inglês | MEDLINE | ID: mdl-31646703

RESUMO

We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrome) (MIM# 300966) caused by pathogenic variants involving the X-linked gene TAF1, which participates in RNA polymerase II transcription. The initial study reported eleven families, and the syndrome was defined as presenting early in life with hypotonia, facial dysmorphia, and developmental delay that evolved into intellectual disability (ID) and/or autism spectrum disorder (ASD). We have now identified an additional 27 families through a genotype-first approach. Familial segregation analysis, clinical phenotyping, and bioinformatics were capitalized on to assess potential variant pathogenicity, and molecular modelling was performed for those variants falling within structurally characterized domains of TAF1. A novel phenotypic clustering approach was also applied, in which the phenotypes of affected individuals were classified using 51 standardized Human Phenotype Ontology (HPO) terms. Phenotypes associated with TAF1 variants show considerable pleiotropy and clinical variability, but prominent among previously unreported effects were brain morphological abnormalities, seizures, hearing loss, and heart malformations. Our allelic series broadens the phenotypic spectrum of TAF1/MRXS33 intellectual disability syndrome and the range of TAF1 molecular defects in humans. It also illustrates the challenges for determining the pathogenicity of inherited missense variants, particularly for genes mapping to chromosome X. This article is protected by copyright. All rights reserved.

15.
Acta Cardiol ; : 1-6, 2019 Oct 04.
Artigo em Inglês | MEDLINE | ID: mdl-31583969

RESUMO

Background: Familial dilated cardiomyopathy (DCM) is genetically heterogeneous and is associated with mutations in at least 40 different genes. Apart from TTN encoding the giant protein Titin, none of these genes have an expected diagnostic yield of more than 5% complicating genetic diagnosis. Whole exome sequencing (WES) is a powerful alternative for the identification of the causal gene, however variant interpretation remains challenging. We report on WES in a large family with autosomal dominant DCM complicated by end stage heart failure and non-sustained ventricular arrhythmias in whom no causative mutation was identified using a targeted gene panel including 28 genes. Methods and results: WES was applied on 2 affected cousins. Stringent filtering of the identified genetic variants was performed including population variant frequencies, in silico analysis, orthologous and paralogous conservation. Subsequently Sanger sequencing was performed for 10 potential disease causing variants in order to confirm the presence of the variant and to evaluate co-segregation. Only one variant in exon 9 of the RBM20 gene (c.2714T > A, p.Met950Lys, NM_001334363) showed full co-segregation in the 7 affected family members resulting in a maximum 2-point LOD score of 2.1 and suggesting this as the pathogenic mutation responsible for the phenotype. Recently mutations in RBM20 have been linked to arrhythmogenic dilated cardiomyopathy caused by defective splicing of the giant sarcomere protein titin and abnormal calcium handling. Conclusions: We report the identification of a novel mutation in RBM20 by WES in a large pedigree with DCM.

16.
Birth Defects Res ; 111(19): 1561-1563, 2019 11 15.
Artigo em Inglês | MEDLINE | ID: mdl-31419067

RESUMO

BACKGROUND: The extraction and processing of copper and cobalt in the African Copperbelt in the Democratic Republic of Congo have led to substantial environmental pollution, causing concerns about possible adverse effects on human health, including birth defects. CASES: We report three neonates with clinically diagnosed holoprosencephaly who were part of a case-control study performed in Lubumbashi between February 2013 and February 2015. One mother had a high concentration of uranium in urine, and high manganese concentrations were found in blood of another mother and in cord blood of one infant. Two of the three fathers had a mining-related job. DISCUSSION: We hypothesize that these cases of holoprosencephaly were connected to mining-related pollution, possibly via epigenetic alterations induced by paternal occupational exposure to toxic metals.

17.
Genet Med ; 21(12): 2807-2814, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31164752

RESUMO

PURPOSE: Phenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible for bioinformatics workflows after encoding into clinical terms by expert dysmorphologists. METHODS: Here, we introduce an approach driven by artificial intelligence that uses portrait photographs for the interpretation of clinical exome data. We measured the value added by computer-assisted image analysis to the diagnostic yield on a cohort consisting of 679 individuals with 105 different monogenic disorders. For each case in the cohort we compiled frontal photos, clinical features, and the disease-causing variants, and simulated multiple exomes of different ethnic backgrounds. RESULTS: The additional use of similarity scores from computer-assisted analysis of frontal photos improved the top 1 accuracy rate by more than 20-89% and the top 10 accuracy rate by more than 5-99% for the disease-causing gene. CONCLUSION: Image analysis by deep-learning algorithms can be used to quantify the phenotypic similarity (PP4 criterion of the American College of Medical Genetics and Genomics guidelines) and to advance the performance of bioinformatics pipelines for exome analysis.


Assuntos
Biologia Computacional/métodos , Processamento de Imagem Assistida por Computador/métodos , Análise de Sequência de DNA/métodos , Algoritmos , Bases de Dados Genéticas , Aprendizado Profundo , Exoma/genética , Feminino , Genômica , Humanos , Masculino , Fenótipo , Software
18.
Genet Med ; 21(12): 2774-2780, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31197268

RESUMO

PURPOSE: Noninvasive prenatal screening (NIPS) using genome sequencing also reveals maternal copy-number variations (CNVs). Those CNVs can be clinically actionable or harmful to the fetus if inherited. CNVs in the DMD gene potentially causing dystrophinopathies are among the most commonly observed maternal CNVs. We present our experience with maternal DMD gene CNVs detected by NIPS. METHODS: We analyzed the data of maternal CNVs detected in the DMD gene revealed by NIPS. RESULTS: Of 26,123 NIPS analyses, 16 maternal CNVs in the DMD gene were detected (1/1632 pregnant women). Variant classification regarding pathogenicity and phenotypic severity was based on public databases, segregation analysis in the family, and prediction of the effect on the reading frame. Ten CNVs were classified as pathogenic, four as benign, and two remained unclassified. CONCLUSION: NIPS leverages CNV screening in the general population of pregnant women. We implemented a strategy for the interpretation and the return of maternal CNVs in the DMD gene detected by NIPS.


Assuntos
Distrofina/genética , Achados Incidentais , Teste Pré-Natal não Invasivo/ética , Adulto , Variações do Número de Cópias de DNA/genética , Distrofina/metabolismo , Feminino , Feto , Humanos , Teste Pré-Natal não Invasivo/métodos , Gravidez , Diagnóstico Pré-Natal/ética , Diagnóstico Pré-Natal/métodos , Análise de Sequência de DNA/ética , Análise de Sequência de DNA/métodos
20.
Am J Med Genet A ; 179(3): 448-454, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30635960

RESUMO

The 22q11.2 deletion syndrome (22q11.2DS) is the second most common cause of developmental delay after Down syndrome. Impaired cognitive development is highly prevalent, but also motor abnormalities such as hypotonia and delays in achieving motor milestones are described. Instability is frequently detected in children, adolescents, and adults and is mostly attributed to their limited motor performance. Until now, vestibular function has not been investigated in these patients, despite the growing evidence that they often have inner ear malformations. The aim of this prospective study was to identify the presence and character of vestibular dysfunction in 22q11.2DS. We investigated 23 subjects with proven 22q11.2DS, older than the age of 12. We performed caloric testing and pendular rotation chair tests with videonystagmography, cervical vestibular-evoked myogenic potential (c-VEMP)-testing, and posturography. Additional otoscopy and audiometry were performed on all subjects. We found a unilateral caloric hypofunction in 55% of patients, a certain absent c-VEMP response in 15% of ears, an inconclusive c-VEMP response in 33% of ears, and abnormal posturography in 68% of patients, of whom 42% displayed a typical vestibular pattern. Remarkably, 90% revealed uni- or bilateral weak caloric responses, independent of caloric symmetry. Vestibular dysfunction is frequent in subjects with 22q11.2DS. This knowledge should be taken into account when assessing motor performance in these patients. Additional larger studies are needed to determine whether this dysfunction implicates a therapeutic potential.


Assuntos
Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/fisiopatologia , Vestíbulo do Labirinto/fisiopatologia , Adolescente , Adulto , Animais , Criança , Síndrome de DiGeorge/genética , Potenciais Evocados Auditivos , Feminino , Humanos , Masculino , Camundongos , Avaliação de Sintomas , Proteínas com Domínio T/genética , Potenciais Evocados Miogênicos Vestibulares , Adulto Jovem
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