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1.
Clin Genet ; 96(3): 246-253, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31090057

RESUMO

Two distinct genomic disorders have been linked to Xq28-gains, namely Xq28-duplications including MECP2 and Int22h1/Int22h2-mediated duplications involving RAB39B. Here, we describe six unrelated patients, five males and one female, with Xq28-gains distal to MECP2 and proximal to the Int22h1/Int22h2 low copy repeats. Comparison with patients carrying overlapping duplications in the literature defined the MidXq28-duplication syndrome featuring intellectual disability, language impairment, structural brain malformations, microcephaly, seizures and minor craniofacial features. The duplications overlapped for 108 kb including FLNA, RPL10 and GDI1 genes, highly expressed in brain and candidates for the neurologic phenotype.

2.
BMJ Case Rep ; 12(5)2019 May 10.
Artigo em Inglês | MEDLINE | ID: mdl-31079043

RESUMO

Uniparental disomy (UPD) is a congenital disease characterised by the presence of two homologous chromosomes inherited from one parent in a diploid offspring. Maternal UPD of the chromosome 14 (UPD(14)mat, Temple syndrome) is a rare disorder with heterogeneous clinical presentation. Here, we report a case of UPD(14)mat with a small supernumerary marker chromosome in a 6-year-old baby girl, presenting endocrinological disorders and incomplete clinical presentation. She came to our attention because of precocious beginning of pubarche and normal stature. Most of Temple syndrome signs were lacking. Provocative tests diagnosed incomplete growth hormone (GH) response and confirmed precocious puberty. One year treatment with recombinant human GH and gonadotropin-releasing hormone (GnRH) agonists proved successful, increasing height and arresting puberty. We recommend provocative tests for GH in UPD(14)mat as a GH deficiency can be hidden by a concurrent precocious puberty. Concomitant human GH and GnRH analogue treatment can be pursued.

4.
Am J Med Genet A ; 2018 Sep 23.
Artigo em Inglês | MEDLINE | ID: mdl-30244530

RESUMO

Wolf-Hirschhorn syndrome is a well-defined disorder due to 4p16.3 deletion, characterized by distinct facial features, intellectual disability, prenatal and postnatal growth retardation, and seizures. Genotype-phenotype correlations based on differently sized deletions have been attempted, and some candidate genes have been suggested. We report on clinical characteristics of three patients with pure interstitial submicroscopic 4p16.3 deletions, ranging in size from 68 to 166 kb, involving WHSCR1 and/or part of WHSCR2, and review published cases with overlapping 4p16.3 losses. The present study highlights a major role of NSD2 gene in the pathogenesis of the WHS main features and predicts that loss-of-function mutations affecting NSD2 gene could result in microcephaly, prenatal and postnatal growth retardation, psychomotor and language delay, and craniofacial features. Absent seizures in all subjects corroborate the suggestion that this specific feature is causally linked with at least one additional causative gene. Finally, we suggest that mir-943 could play a role in the pathogenesis of CHD in some of these patients.

5.
Genet Med ; 2018 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-30190611

RESUMO

PURPOSE: Neurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-frame deletion, c.2970_2972del (p.Met992del), associated with a mild phenotype without any externally visible tumors. METHODS: A total of 135 individuals from 103 unrelated families, all carrying the constitutional NF1 p.Met992del pathogenic variant and clinically assessed using the same standardized phenotypic checklist form, were included in this study. RESULTS: None of the individuals had externally visible plexiform or histopathologically confirmed cutaneous or subcutaneous neurofibromas. We did not identify any complications, such as symptomatic optic pathway gliomas (OPGs) or symptomatic spinal neurofibromas; however, 4.8% of individuals had nonoptic brain tumors, mostly low-grade and asymptomatic, and 38.8% had cognitive impairment/learning disabilities. In an individual with the NF1 constitutional c.2970_2972del and three astrocytomas, we provided proof that all were NF1-associated tumors given loss of heterozygosity at three intragenic NF1 microsatellite markers and c.2970_2972del. CONCLUSION: We demonstrate that individuals with the NF1 p.Met992del pathogenic variant have a mild NF1 phenotype lacking clinically suspected plexiform, cutaneous, or subcutaneous neurofibromas. However, learning difficulties are clearly part of the phenotypic presentation in these individuals and will require specialized care.

6.
Ann Ist Super Sanita ; 54(2): 109-116, 2018 Apr-Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29916415

RESUMO

BACKGROUND: Italian External Quality Assessment (IEQA) Program in Cytogenetics, established in 2001 by the Istituto Superiore di Sanità (ISS), covers both Constitutional and Oncohaematological diagnosis. In 2013, performance criteria were defined and adopted. In this paper, we present the data from the first 4 years of activity (2013-2016) following the introduction of performance criteria. METHODS: The enrollment is voluntary, fee-based and open to both public and private Italian laboratories. The scheme is annual and retrospective; a national panel of experts assess technical, analytical and interpretative performance. RESULTS: Overall, 95 distinct Italian laboratories participated in different Cytogenetics IEQA schemes over the 2013-2016 years and most of the laboratories took part in Constitutional diagnosis. General hospitals and local health centers represented 40% of the total participants and the percentage of laboratories from Northern Regions was more than 45% of total participants throughout the 4-year period. As regards the performance evaluation, on average, 11, 9 and 23% of participants were marked as poor performers in Prenatal, Postnatal and Oncohaematological schemes, respectively. With regard to critical errors, ISCN nomenclature in Prenatal and Postnatal schemes, and interpretation in Oncohaematological diagnosis, were identified as main issues. On the other hand, karyotype errors and inadequate analysis decreased strongly, over the 4 years, in Constitutional and Oncohaematological diagnosis, respectively. CONCLUSIONS: Our data show that the introduction of poor performance encourages laboratories to address critical issues, and the IEQA participation helps to improve quality in cytogenetic testing.


Assuntos
Citogenética/normas , Testes Genéticos/normas , Garantia da Qualidade dos Cuidados de Saúde , Adulto , Criança , Neoplasias Hematológicas/diagnóstico , Humanos , Itália , Laboratórios , Melhoria de Qualidade
7.
Mol Cancer Res ; 16(9): 1385-1395, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29784668

RESUMO

Centrosome anomalies contribute to tumorigenesis, but it remains unclear how they are generated in lethal cancer phenotypes. Here, it is demonstrated that human microsatellite instable (MSI) and BRAFV600E-mutant colorectal cancers with a lethal rhabdoid phenotype are characterized by inactivation of centrosomal functions. A splice site mutation that causes an unbalanced dosage of rootletin (CROCC), a centrosome linker component required for centrosome cohesion and separation at the chromosome 1p36.13 locus, resulted in abnormally shaped centrosomes in rhabdoid cells from human colon tissues. Notably, deleterious deletions at 1p36.13 were recurrent in a subgroup of BRAFV600E-mutant and microsatellite stable (MSS) rhabdoid colorectal cancers, but not in classical colorectal cancer or pediatric rhabdoid tumors. Interfering with CROCC expression in near-diploid BRAFV600E-mutant/MSI colon cancer cells disrupts bipolar mitotic spindle architecture, promotes tetraploid segregation errors, resulting in a highly aggressive rhabdoid-like phenotype in vitro Restoring near-wild-type levels of CROCC in a metastatic model harboring 1p36.13 deletion results in correction of centrosome segregation errors and cell death, revealing a mechanism of tolerance to mitotic errors and tetraploidization promoted by deleterious 1p36.13 loss. Accordingly, cancer cells lacking 1p36.13 display far greater sensitivity to centrosome spindle pole stabilizing agents in vitro These data shed light on a previously unknown link between centrosome cohesion defects and lethal cancer phenotypes providing new insight into pathways underlying genome instability.Implications: Mis-segregation of chromosomes is a prominent feature of chromosome instability and intratumoral heterogeneity recurrent in metastatic tumors for which the molecular basis is unknown. This study provides insight into the mechanism by which defects in rootletin, a centrosome linker component causes tetraploid segregation errors and phenotypic transition to a clinically devastating form of malignant rhabdoid tumor. Mol Cancer Res; 16(9); 1385-95. ©2018 AACR.

8.
Am J Med Genet A ; 173(1): 231-238, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27683195

RESUMO

Smith-Magenis syndrome (SMS) is a complex genetic disorder caused by interstitial 17p11.2 deletions encompassing multiple genes, including the retinoic acid induced 1 gene-RAI1-or mutations in RAI1 itself. The clinical spectrum includes developmental delay, cognitive impairment, and behavioral abnormalities, with distinctive physical features that become more evident with age. No patients have been reported to have had offspring. We here describe a girl with developmental delay, mainly compromising the speech area, and her mother with mild intellectual disabilities and minor dysmorphic features. Both had sleep disturbance and attention deficit disorder, but no other atypical behaviors have been reported. In both, CGH-array analysis detected a 15q13.3 interstitial duplication, encompassing CHRNA7. However, the same duplication has been observed in several, apparently healthy, maternal relatives. We, thus, performed a whole exome sequencing analysis, which detected a frameshift mutation in RAI1, de novo in the mother, and transmitted to her daughter. No other family members carried this mutation. This is the first report of an SMS patient having offspring. Our experience confirms the importance of searching for alternative causative genetic mechanisms in case of confounding/inconclusive findings such as a CGH-array result of uncertain significance. © 2016 Wiley Periodicals, Inc.


Assuntos
Peptídeos e Proteínas de Sinalização Intracelular/genética , Mães , Mutação , Núcleo Familiar , Fenótipo , Proteínas Repressoras/genética , Síndrome de Smith-Magenis/diagnóstico , Síndrome de Smith-Magenis/genética , Adulto , Criança , Hibridização Genômica Comparativa , Exoma , Facies , Feminino , Estudos de Associação Genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Linhagem , Reprodutibilidade dos Testes
10.
Am J Med Genet A ; 164A(10): 2627-32, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25044788

RESUMO

Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme, iduronate-2-sulfatase (IDS). Phenotypic expression of MPS II in female patients rarely occurs and may be the result of (i) structural abnormalities of the X chromosome, (ii) homozygosity for disease-causing mutations, or (iii) skewed X-chromosome inactivation, in which the normal IDS allele is preferentially inactivated and the abnormal IDS allele is active. We report here on a female patient with clinical MPS II manifestations, deficiency of IDS enzyme activity and a de novo balanced reciprocal X;9 translocation. As our patient has a skewed XCI pattern, but neither genomic IDS mutations nor abnormal IDS transcripts were detected, we speculate about the possible role of the chromosomal rearrangement in reducing the IDS translation efficiency.


Assuntos
Mucopolissacaridose II/genética , Translocação Genética/genética , Inativação do Cromossomo X/genética , Alelos , Criança , Feminino , Humanos , Iduronato Sulfatase/genética , Mutação/genética , Fenótipo
11.
Am J Med Genet A ; 161A(11): 2920-9, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24124101

RESUMO

During the 18th century in Naples, Raimondo di Sangro, Prince of Sansevero, completed works on the family chapel, the so-called "Cappella Sansevero." The chapel houses statues of extraordinary beauty and spectacularly detailed but also, in the basement, two human skeletons known as the "Anatomical Machines" ("Macchine Anatomiche"). These two skeletons, a man and a pregnant woman, are entirely surrounded by their circulatory systems, just as if these were suddenly fixed. Legend, believed as truth until few years ago, says that Prince Raimondo had prepared and injected an unknown embalming substance in the blood vessels of two of his servants convicting them to eternal fixity. Recent investigations have demonstrated that, while the bones are authentic, the blood vessels are actually extraordinary artifacts that also reproduce some congenital malformations. The dreadful aspect of these two skeletons appears to be in strident contrast with the classic beauty of the statues which glorify and celebrate the ideal of morphology. Conversely, the two Anatomical Machines, protagonists of legends and superstitions since centuries, represent a marvelous example of science mixed with art.


Assuntos
Anatomia Artística , Anatomia , Medicina nas Artes , Anatomia/história , Feminino , História do Século XVIII , Humanos , Masculino
12.
Horm Res Paediatr ; 80(3): 207-12, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24051691

RESUMO

AIM: To evaluate the use of baseline inhibin B (INHB) levels to differentiate the progressive form (PF) from the non-progressive form (NPF) of central precocious puberty (CPP). METHODS: A total of 62 girls were enrolled, 31 with PF and 31 with NPF. Using receiver operating characteristic (ROC) curves, we analysed the diagnostic performance of INHB in addition to other diagnostic tools used to differentiate the 2 forms of CPP. RESULTS: INHB levels were higher in PF versus NPF (29.1 vs. 13.1 pg/ml; p < 0.001). The ROC area under the curve (AUC) was greatest for luteinizing hormone [LH; 0.807, standard error (SE) 0.069], followed by INHB (0.800, SE 0.067), ovarian volume (OV; 0.782, SE 0.070) and uterine volume (0.723, SE 0.076). In ROCs relative to a combination of such parameters, the AUC was greater for LH + INHB (0.972, SE 0.010), followed by OV + LH (0.841, SE 0.084) and OV + INHB (0.836, SE 0.075). The combination of INHB and LH (with cut-offs of 20 pg/ml and 0.2 IU/l, respectively) results in 98% sensitivity and specificity. CONCLUSION: Our results suggest that the addition of basal INHB values to baseline LH levels provides a reliable method to identify PF. Further replication studies are needed to definitively prove or disprove the utility and advantages of INHB levels as part of the work-up of CPP.


Assuntos
Inibinas/sangue , Puberdade Precoce/sangue , Criança , Feminino , Humanos , Puberdade Precoce/patologia , Puberdade Precoce/fisiopatologia , Curva ROC , Útero/metabolismo , Útero/patologia , Útero/fisiopatologia
13.
Am J Med Genet A ; 161A(4): 809-16, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23444346

RESUMO

Ever since the 9th century during the High Middle Ages, the "Schola Medica Salernitana," believed to be the first medical school in the western world, flourished in Salerno, a city in southern Italy. Although an important role is attributed to several men of this school, who were recognized as wise and learned doctors, modern historiography has also reevaluated and extolled the praiseworthy role of women. Contrary to the common beliefs and expectations of a woman's "place" at the time, these women were fully titled physicians. Attention was also paid to the health and welfare of children. However, there are no apparent references to physical disabilities, a mysterious omission that seems incompatible with an institution that stood as a beacon of knowledge for centuries. Mysteries, discoveries, and potential hidden messages are mingled in a fascinating medieval codex yet to be fully deciphered. The medical school reached its maximum splendor between the years of 1000 and 1300 AD. After alternating fortunes, the Salernitan institution began a slow decline due to the explosive development of other universities, such as those in Paris, Bologna, Padua, and most significantly, the nearby University of Naples. It was eventually closed by the King of Naples, Joachim Murat, November 29, 1811.


Assuntos
Faculdades de Medicina/história , Criança , Feminino , História Medieval , Humanos , Itália , Masculino , Ocidente
14.
Am J Med Genet A ; 155A(4): 769-77, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21416588

RESUMO

Partial trisomy 16 is rare and most of the reported cases are secondary to chromosome rearrangements resulting in concurrent monosomies or trisomies of a second chromosome. Only a few patients survive the neonatal period and the duplication of the long arm seems to be mainly responsible for the prenatal lethality of the full trisomy 16. The reported patients with a partial 16q trisomy have a wide spectrum of congenital anomalies that include dysmorphic features, central nervous system malformations, failure to thrive, and club feet. The patients with duplications of proximal 16q frequently have short stature, developmental delay, speech delay, learning difficulties, and mild to severe behavioral problems. Here we describe a patient with an inverted de novo tandem duplication of 16q with breakpoints evaluated in detail by molecular-cytogenetic techniques. Main clinical features include postural, motor and speech delay with severe learning difficulties and behavioral problems, obesity, microcephaly, and mild dysmorphic features. In the report we attempt to classify the few reported patients with pure partial duplications of 16q in more narrow and homogeneous groups: proximal, proximal-intermediate, intermediate, and intermediate-distal duplications. Moreover, we emphasize the importance of proper cytogenetic investigation and complete molecular cytogenetic refinement in all cases with a suspected chromosomal anomaly.


Assuntos
Hibridização Genômica Comparativa , Análise Citogenética , Fenótipo , Trissomia , Pré-Escolar , Cromossomos Humanos Par 16/genética , Feminino , Humanos , Trissomia/diagnóstico , Trissomia/genética
15.
Am J Med Genet A ; 149A(11): 2452-6, 2009 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19839044

RESUMO

We report on a 3-year-old boy with prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead with receded hairline, sparse scalp hair, beaked nose, mild retrognathia and hypotonia diagnosed at birth as Seckel syndrome. At age 3 years, he became paralyzed due to a cerebrovascular malformation. Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome. Western blot analysis of the patient's lymphoblastoid cell line lysate showed the absence of the protein pericentrin. Subsequent molecular analysis identified a novel homozygous single base insertion (c.1527_1528insA) in exon 10 of the PCNT gene, which leads to a frameshift (Treo510fs) and to premature protein truncation. PCNT mutations must be considered diagnostic of MOPD II syndrome. A possible role of pericentrin in the development of cerebral vessels is suggested.


Assuntos
Antígenos/genética , Nanismo/complicações , Nanismo/diagnóstico , Mutação/genética , Síndrome de Costela Curta e Polidactilia/complicações , Síndrome de Costela Curta e Polidactilia/diagnóstico , Adulto , Sequência de Bases , Western Blotting , Osso e Ossos/diagnóstico por imagem , Encéfalo/patologia , Estudos de Casos e Controles , Pré-Escolar , Análise Mutacional de DNA , Diagnóstico Diferencial , Nanismo/diagnóstico por imagem , Feminino , Humanos , Lactente , Recém-Nascido , Angiografia por Ressonância Magnética , Masculino , Dados de Sequência Molecular , Gravidez , Radiografia , Síndrome de Costela Curta e Polidactilia/diagnóstico por imagem , Síndrome
17.
Am J Med Genet A ; 143A(22): 2733-7, 2007 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-17937430

RESUMO

Chromosomal abnormalities may cause autism by disrupting a gene or by providing a permissive genetic environment for mutations elsewhere in the genome to become expressed as autism. We report here on a patient with an apparently balanced de novo translocation of chromosomes 1q and 5q. He presented with minor dysmorphic features and renal malformations, mental retardation, and autism. Further characterization of the chromosomal rearrangement by FISH revealed a deletion in chromosome 1 from q23.3 to q24.2 corresponding to a region of rising interest in the research of autism susceptibility genes. The array-CGH technique gave better resolution of the breakpoints and the size of the deletion was calculated to be 4.97 Mb.


Assuntos
Transtorno Autístico/genética , Cromossomos Humanos Par 1 , Cromossomos Humanos Par 5 , Cromossomos , Translocação Genética , Anormalidades Múltiplas , Humanos , Hibridização in Situ Fluorescente , Lactente , Deficiência Intelectual , Masculino
18.
Eur J Med Genet ; 50(4): 301-8, 2007 Jul-Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17591464

RESUMO

Microdeletions of Xp22.3 can result in contiguous gene syndromes, showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, hypogonadotropic hypogonadism, anosmia, ocular albinism, short stature and mental retardation. We report on a boy with ichthyosis, dysmorphic features and mental retardation with ADHD. The patient was born at term after a pregnancy complicated by threatened abortion; decreased fetal movements and low estriol serum levels were reported during the last trimester. The boy was referred to us at the age of 13 years. He presented with aggressive and hyperactive behavior. He had dry hair, a flat face, bilateral lens opacities, a small nose with hypoplastic tip, alae nasi and nares, a high-arched palate with a very small cleft, mixed dentition with 7 unerupted permanent teeth, left sensorineural and right mixed hearing loss with a calcified plaque of the tympanic membrane, marked shortness of terminal phalanges of hands and feet, ichthyosis of trunk and limbs. The genomic interval between AFM248th5 and KAL1 was investigated. PCR analysis showed a deletion in Xp22.3, with the distal breakpoint between the marker AFM248th5 and PABX and the proximal one between DXS278 and KAL1. Array-CGH and FISH analysis confirmed the interstitial deletion (of about 5.5 Mb) and refined the breakpoints. We discuss the phenotype of our patient in relationship to the deleted segment and the possibility of mental retardation and ADHD genes in the region.


Assuntos
Anormalidades Múltiplas/genética , Transtorno do Deficit de Atenção com Hiperatividade/genética , Condrodisplasia Punctata/genética , Deleção Cromossômica , Cromossomos Humanos X , Ictiose/genética , Deficiência Intelectual/genética , Adolescente , Análise Citogenética , Proteínas da Matriz Extracelular/genética , Marcadores Genéticos , Humanos , Masculino , Proteínas do Tecido Nervoso/genética , Fenótipo
19.
Am J Med Genet A ; 143A(24): 3169-74, 2007 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-17431918

RESUMO

Al-Awadi/Raas-Rothschild syndrome, an autosomal recessive disorder, is characterized by severe malformations of the upper and lower limbs, and a hypoplastic pelvis. We describe two new cases with the typical manifestations, report some new findings, review the relevant literature, and present minimal criteria for the diagnosis. A single homozygous WNT7A mutation was identified by Woods et al. [2006]: 1179C --> T, resulting in Arg292Cys with complete loss of WNT7A function.


Assuntos
Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/genética , Síndrome , Saúde da Família , Feminino , Feto/patologia , Genes Recessivos , Aconselhamento Genético , Humanos , Masculino , Pelve/patologia
20.
Mol Genet Metab ; 88(2): 192-5, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16600650

RESUMO

Fish-odor syndrome or trimethylaminuria, is a rare inborn error of metabolism inherited in an autosomal recessive fashion, involving the dysfunction of hepatic enzyme flavin-containing monooxygenase 3 (FMO3) that converts fishy-smelling trimethylamine (TMA) into odorless trimethylamine-N-oxide (TMAO). This confers, to the affected individual a very unpleasant body odor resembling that of rotting fish. This disorder has been relatively well-documented in British, Australian, and American populations and reports have appeared regarding patients in Thailand and Hong Kong, but no Italian families affected by trimethylaminuria have been reported in the literature. We have collected a cohort of Italian families and investigated the genetic basis of the disorder in these Italian pedigrees disclosing a spectrum of molecular variation in the FM03 gene comprising three novel deleterious mutations: the first documented de novo missense mutation causative of trimethylaminuria; a guanidine nucleotide deletion (G1182del) at codon 394 and a novel missense mutation (R238P) that altered highly conserved amino acid in the exon 6. Moreover, we investigated by aplotype analysis a family with mild TMAuria identifying a putative causative aplotype. Finally, we failed to detect any variation in other Italian families suggesting that this gene is not associated with all clinical form of trimethylaminuria or that polymorphisms in this gene could be susceptibility factors for developing the disease. Our findings support the hypothesis that TMAuria is not a rare recessive disorder but rather a spectrum of malodour phenotypes in which diet and environmental exposures can play a role in triggering symptoms.


Assuntos
Erros Inatos do Metabolismo/genética , Metilaminas/urina , Oxigenases/genética , Oxigenases/metabolismo , Estudos de Coortes , Análise Mutacional de DNA , Feminino , Mutação da Fase de Leitura , Deleção de Genes , Haplótipos , Heterozigoto , Humanos , Itália , Masculino , Mutação de Sentido Incorreto , Odorantes , Linhagem , Fenótipo , Polimorfismo Genético
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