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1.
J Anat ; 2024 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-38760592

RESUMO

The RUNT-related transcription factor RUNX2 plays a critical role in osteoblast differentiation, and alterations to gene dosage cause distinct craniofacial anomalies. Uniquely amongst the RUNT-related family, vertebrate RUNX2 encodes a polyglutamine/polyalanine repeat (Gln23-Glu-Ala17 in humans), with the length of the polyalanine component completely conserved in great apes. Surprisingly, a frequent 6-amino acid deletion polymorphism, p.(Ala84_Ala89)del, occurs in humans (termed 11A allele), and a previous association study (Cuellar et al. Bone 137:115395;2020) reported that the 11A variant was significantly more frequent in non-syndromic sagittal craniosynostosis (nsSag; allele frequency [AF] = 0.156; 95% confidence interval [CI] 0.126-0.189) compared to non-syndromic metopic craniosynostosis (nsMet; AF = 0.068; 95% CI 0.045-0.098). However, the gnomAD v.2.1.1 control population used by Cuellar et al. did not display Hardy-Weinberg equilibrium, hampering interpretation. To re-examine this association, we genotyped the RUNX2 11A polymorphism in 225 individuals with sporadic nsSag as parent-child trios and 164 singletons with sporadic nsMet, restricting our analysis to individuals of European ancestry. We compared observed allele frequencies to the non-transmitted alleles in the parent-child trios, and to the genome sequencing data from gnomAD v.4, which display Hardy-Weinberg equilibrium. Observed AFs (and 95% CI) were 0.076 (0.053-0.104) in nsSag and 0.082 (0.055-0.118) in nsMet, compared with 0.062 (0.042-0.089) in non-transmitted parental alleles and 0.065 (0.063-0.067) in gnomAD v.4.0.0 non-Finnish European control genomes. In summary, we observed a non-significant excess, compared to gnomAD data, of 11A alleles in both nsSag (relative risk 1.18, 95% CI 0.83-1.67) and nsMet (relative risk 1.29, 95% CI 0.87-1.92), but we did not replicate the much higher excess of RUNX2 11A alleles in nsSag previously reported (p = 0.0001).

2.
Am J Med Genet A ; 176(9): 2004-2008, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30079626

RESUMO

1q24q25 deletions cause a distinctive phenotype including proportionate short stature, microcephaly, brachydactyly, dysmorphic facial features and intellectual disability. We present a mother and son who have a 672 kb microdeletion at 1q24q25. They have the typical skeletal features previously described but do not have any associated intellectual disability. We compare the genes within our patients' deletion to those in the deletions of previously reported cases. This indicates two genes that may be implicated in the intellectual disability usually associated with this deletion syndrome; PIGC and C1orf105. In addition, our cases provide supporting evidence to recent published work suggesting that the skeletal features may be linked to the microRNAs miR199 and miR214, encoded within intron 14 of the Dynamin-3 gene.


Assuntos
Deleção Cromossômica , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 1 , Estudos de Associação Genética , Fenótipo , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Adulto , Hibridização Genômica Comparativa , Feminino , Testes Genéticos , Humanos , Lactente , Masculino , Avaliação de Sintomas
3.
J Med Genet ; 54(7): 479-488, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28119487

RESUMO

BACKGROUND: Cohesinopathies are rare neurodevelopmental disorders arising from a dysfunction in the cohesin pathway, which enables chromosome segregation and regulates gene transcription. So far, eight genes from this pathway have been reported in human disease. STAG1 belongs to the STAG subunit of the core cohesin complex, along with five other subunits. This work aimed to identify the phenotype ascribed to STAG1 mutations. METHODS: Among patients referred for intellectual disability (ID) in genetics departments worldwide, array-comparative genomic hybridisation (CGH), gene panel, whole-exome sequencing or whole-genome sequencing were performed following the local diagnostic standards. RESULTS: A mutation in STAG1 was identified in 17 individuals from 16 families, 9 males and 8 females aged 2-33 years. Four individuals harboured a small microdeletion encompassing STAG1; three individuals from two families had an intragenic STAG1 deletion. Six deletions were identified by array-CGH, one by whole-exome sequencing. Whole-exome sequencing found de novo heterozygous missense or frameshift STAG1 variants in eight patients, a panel of genes involved in ID identified a missense and a frameshift variant in two individuals. The 17 patients shared common facial features, with wide mouth and deep-set eyes. Four individuals had mild microcephaly, seven had epilepsy. CONCLUSIONS: We report an international series of 17 individuals from 16 families presenting with syndromic unspecific ID that could be attributed to a STAG1 deletion or point mutation. This first series reporting the phenotype ascribed to mutation in STAG1 highlights the importance of data sharing in the field of rare disorders.


Assuntos
Proteínas de Ciclo Celular/metabolismo , Proteínas Cromossômicas não Histona/metabolismo , Deficiência Intelectual/genética , Mutação/genética , Proteínas Nucleares/genética , Adulto , Criança , Pré-Escolar , Hibridização Genômica Comparativa , Feminino , Humanos , Lactente , Masculino , Linhagem , Fenótipo , Síndrome , Sequenciamento do Exoma , Coesinas
4.
Hum Mutat ; 37(2): 148-54, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26507355

RESUMO

Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia. Haploinsufficiency of a spliceosomal GTPase, U5-116 kDa/EFTUD2, is responsible. Here, we review the molecular basis of MFDM in the 69 individuals described to date, and report mutations in 38 new individuals, bringing the total number of reported individuals to 107 individuals from 94 kindreds. Pathogenic EFTUD2 variants comprise 76 distinct mutations and seven microdeletions. Among point mutations, missense substitutions are infrequent (14 out of 76; 18%) relative to stop-gain (29 out of 76; 38%), and splicing (33 out of 76; 43%) mutations. Where known, mutation origin was de novo in 48 out of 64 individuals (75%), dominantly inherited in 12 out of 64 (19%), and due to proven germline mosaicism in four out of 64 (6%). Highly penetrant clinical features include, microcephaly, first and second arch craniofacial malformations, and hearing loss; esophageal atresia is present in an estimated ∼27%. Microcephaly is virtually universal in childhood, with some adults exhibiting late "catch-up" growth and normocephaly at maturity. Occasionally reported anomalies, include vestibular and ossicular malformations, reduced mouth opening, atrophy of cerebral white matter, structural brain malformations, and epibulbar dermoid. All reported EFTUD2 mutations can be found in the EFTUD2 mutation database (http://databases.lovd.nl/shared/genes/EFTUD2).


Assuntos
Anormalidades Múltiplas/genética , Perda Auditiva/genética , Deficiência Intelectual/genética , Disostose Mandibulofacial/genética , Microcefalia/genética , Mutação , Fatores de Alongamento de Peptídeos/genética , Ribonucleoproteína Nuclear Pequena U5/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/patologia , Motivos de Aminoácidos , Bases de Dados Genéticas , Expressão Gênica , Haploinsuficiência , Perda Auditiva/diagnóstico , Perda Auditiva/patologia , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/patologia , Disostose Mandibulofacial/diagnóstico , Disostose Mandibulofacial/patologia , Microcefalia/diagnóstico , Microcefalia/patologia , Modelos Moleculares , Dados de Sequência Molecular , Penetrância , Fenótipo , Estrutura Secundária de Proteína , Estrutura Terciária de Proteína , Splicing de RNA , Spliceossomos/genética
5.
Am J Med Genet A ; 167A(10): 2231-7, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26079862

RESUMO

De novo mutations (DNM) in SYNGAP1, encoding Ras/Rap GTPase-activating protein SynGAP, have been reported in individuals with nonsyndromic intellectual disability (ID). We identified 10 previously unreported individuals with SYNGAP1 DNM; seven via the Deciphering Developmental Disorders (DDD) Study, one through clinical analysis for copy number variation and the remaining two (monozygotic twins) via a research multi-gene panel analysis. Seven of the nine heterozygous mutations are likely to result in loss-of-function (3 nonsense; 3 frameshift; 1 whole gene deletion). The remaining two mutations, one of which affected the monozygotic twins, were missense variants. Each individual carrying a DNM in SYNGAP1 had moderate-to-severe ID and 7/10 had epilepsy; typically myoclonic seizures, absences or drop attacks. 8/10 had hypotonia, 5/10 had significant constipation, 7/10 had wide-based/unsteady gait, 3/10 had strabismus, and 2/10 had significant hip dysplasia. A proportion of the affected individuals had a similar, myopathic facial appearance, with broad nasal bridge, relatively long nose and full lower lip vermilion. A distinctive behavioral phenotype was also observed with aggressive/challenging behavior and significant sleep problems being common. 7/10 individuals had MR imaging of the brain each of which was reported as normal. The clinical features of the individuals reported here show significant overlap with those associated with 6p21.3 microdeletions, confirming that haploinsufficiency for SYNGAP1 is responsible for both disorders. © 2015 Wiley Periodicals, Inc.


Assuntos
Heterozigoto , Deficiência Intelectual/genética , Mutação , Proteínas Ativadoras de ras GTPase/genética , Adolescente , Criança , Pré-Escolar , Constipação Intestinal/diagnóstico , Constipação Intestinal/genética , Constipação Intestinal/patologia , Análise Mutacional de DNA , Epilepsias Mioclônicas/diagnóstico , Epilepsias Mioclônicas/genética , Epilepsias Mioclônicas/patologia , Feminino , Transtornos Neurológicos da Marcha/diagnóstico , Transtornos Neurológicos da Marcha/genética , Transtornos Neurológicos da Marcha/patologia , Expressão Gênica , Haploinsuficiência , Luxação do Quadril/diagnóstico , Luxação do Quadril/genética , Luxação do Quadril/patologia , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/patologia , Masculino , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/genética , Hipotonia Muscular/patologia , Fenótipo , Estrabismo/diagnóstico , Estrabismo/genética , Estrabismo/patologia , Gêmeos Monozigóticos
6.
J Hum Genet ; 59(9): 484-7, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25007883

RESUMO

Parathyroid hormone-like hormone (PTHLH, MIM 168470) is a humoral factor, structurally and functionally related to parathyroid hormone, which mediates multiple effects on chondrocyte, osteoblast and osteoclast function. Mutations and copy number imbalances of the PTHLH locus and in the gene encoding its receptor, PTHR1, result in a variety of skeletal dysplasias including brachydactyly type E, Eiken syndrome, Jansen metaphyseal chondrodysplasia and Blomstrand type chondrodysplasia. Here we describe three individuals with duplications of the PTHLH locus, including two who are mosaic for these imbalances, leading to a hitherto unrecognized syndrome characterized by acro-osteolysis, cortical irregularity of long bones and metadiaphyseal enchondromata.


Assuntos
Acro-Osteólise/genética , Variações do Número de Cópias de DNA , Duplicação Gênica , Mutação , Proteína Relacionada ao Hormônio Paratireóideo/genética , Acro-Osteólise/patologia , Hibridização Genômica Comparativa , Saúde da Família , Feminino , Síndrome de Hajdu-Cheney/genética , Síndrome de Hajdu-Cheney/patologia , Humanos , Masculino , Linhagem , Síndrome
7.
Nat Genet ; 33(4): 487-91, 2003 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-12612583

RESUMO

Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. Filamin A, encoded by the gene FLNA, is a widely expressed protein that regulates re-organization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes and second messengers. We identified localized mutations in FLNA that conserve the reading frame and lead to a broad range of congenital malformations, affecting craniofacial structures, skeleton, brain, viscera and urogenital tract, in four X-linked human disorders: otopalatodigital syndrome types 1 (OPD1; OMIM 311300) and 2 (OPD2; OMIM 304120), frontometaphyseal dysplasia (FMD; OMIM 305620) and Melnick-Needles syndrome (MNS; OMIM 309350). Several mutations are recurrent, and all are clustered into four regions of the gene: the actin-binding domain and rod domain repeats 3, 10 and 14/15. Our findings contrast with previous observations that loss of function of FLNA is embryonic lethal in males but manifests in females as a localized neuronal migration disorder, called periventricular nodular heterotopia (PVNH; refs. 3-6). The patterns of mutation, X-chromosome inactivation and phenotypic manifestations in the newly described mutations indicate that they have gain-of-function effects, implicating filamin A in signaling pathways that mediate organogenesis in multiple systems during embryonic development.


Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos X , Proteínas Contráteis/genética , Citoesqueleto/metabolismo , Ligação Genética , Proteínas dos Microfilamentos/genética , Mutação , Polimorfismo Genético , Alelos , Sequência de Aminoácidos , Sequência de Bases , Mapeamento Cromossômico , Análise Mutacional de DNA , Feminino , Filaminas , Humanos , Íntrons , Masculino , Modelos Genéticos , Modelos Moleculares , Dados de Sequência Molecular , Filogenia , Polimorfismo de Nucleotídeo Único , Homologia de Sequência de Aminoácidos , Transdução de Sinais , Síndrome , Distribuição Tecidual
8.
Nat Commun ; 14(1): 853, 2023 02 15.
Artigo em Inglês | MEDLINE | ID: mdl-36792598

RESUMO

Following the diagnosis of a paediatric disorder caused by an apparently de novo mutation, a recurrence risk of 1-2% is frequently quoted due to the possibility of parental germline mosaicism; but for any specific couple, this figure is usually incorrect. We present a systematic approach to providing individualized recurrence risk. By combining locus-specific sequencing of multiple tissues to detect occult mosaicism with long-read sequencing to determine the parent-of-origin of the mutation, we show that we can stratify the majority of couples into one of seven discrete categories associated with substantially different risks to future offspring. Among 58 families with a single affected offspring (representing 59 de novo mutations in 49 genes), the recurrence risk for 35 (59%) was decreased below 0.1%, but increased owing to parental mixed mosaicism for 5 (9%)-that could be quantified in semen for paternal cases (recurrence risks of 5.6-12.1%). Implementation of this strategy offers the prospect of driving a major transformation in the practice of genetic counselling.


Assuntos
Pai , Parto , Masculino , Gravidez , Feminino , Humanos , Criança , Mutação , Medição de Risco , Células Germinativas , Mosaicismo , Linhagem , Mutação em Linhagem Germinativa
9.
Eur J Med Genet ; 61(5): 273-279, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29307788

RESUMO

Pontocerebellar hypoplasia type 10 (PCH10) is a progressive autosomal recessive neurodegenerative disorder that has been recently described in association with cleavage and polyadenylation factor I subunit 1 (CLP1) mutations. To date, all reported cases have the same homozygous missense mutation in the CLP1 gene suggesting a founder mutation. CLP1 is an RNA kinase involved in tRNA splicing and maturation. There is evidence that the mutation is associated with functionally impaired kinase activity and subsequent defective tRNA processing. Through whole exome sequencing, we identified the same mutation in an extended family of Turkish origin. Both children presented with severe psychomotor delay, progressive microcephaly, and constipation. However, intrafamilial phenotypic variability is suggested due to the variability in their brain abnormalities and clinical features.


Assuntos
Doenças Cerebelares/genética , Doenças Cerebelares/diagnóstico , Criança , Feminino , Humanos , Mutação de Sentido Incorreto , Proteínas Nucleares/genética , Linhagem , Fosfotransferases/genética , Fatores de Transcrição/genética , Sequenciamento do Exoma
10.
PLoS One ; 11(4): e0153757, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27124303

RESUMO

We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6 mutations. Of these 42, the diagnoses were 31 individuals with aniridia and 11 individuals referred with a diagnosis of Gillespie syndrome (iris hypoplasia, ataxia and mild to moderate developmental delay). Array-based comparative genomic hybridization identified six whole gene deletions: four encompassing PAX6 and two encompassing FOXC1. Six deletions with plausible cis-regulatory effects were identified: five that were 3' (telomeric) to PAX6 and one within a gene desert 5' (telomeric) to PITX2. Sequence analysis of the FOXC1 and PITX2 coding regions identified two plausibly pathogenic de novo FOXC1 missense mutations (p.Pro79Thr and p.Leu101Pro). No intragenic mutations were detected in PITX2. FISH mapping in an individual with Gillespie-like syndrome with an apparently balanced X;11 reciprocal translocation revealed disruption of a gene at each breakpoint: ARHGAP6 on the X chromosome and PHF21A on chromosome 11. In the other individuals with Gillespie syndrome no mutations were identified in either of these genes, or in HCCS which lies close to the Xp breakpoint. Disruption of PHF21A has previously been implicated in the causation of intellectual disability (but not aniridia). Plausibly causative mutations were identified in 15 out of 42 individuals (12/32 aniridia; 3/11 Gillespie syndrome). Fourteen of these mutations presented in the known aniridia genes; PAX6, FOXC1 and PITX2. The large number of individuals in the cohort with no mutation identified suggests greater locus heterogeneity may exist in both isolated and syndromic aniridia than was previously appreciated.


Assuntos
Aniridia/genética , Ataxia Cerebelar/genética , Deficiência Intelectual/genética , Fator de Transcrição PAX6/genética , Cromossomos Humanos Par 11/genética , Cromossomos Humanos X/genética , Hibridização Genômica Comparativa/métodos , Feminino , Fatores de Transcrição Forkhead/genética , Proteínas Ativadoras de GTPase/genética , Testes Genéticos/métodos , Histona Desacetilases/genética , Proteínas de Homeodomínio/genética , Humanos , Masculino , Mutação/genética , Fatores de Transcrição/genética , Proteína Homeobox PITX2
11.
Am J Med Genet ; 110(2): 153-7, 2002 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-12116253

RESUMO

We report the clinical and molecular analysis in a consanguineous family in which the skeletal dysplasias Léri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) both segregate. A newborn male and his mother, both with Langer mesomelic dysplasia, are described. A homozygous SHOX homeobox point mutation, C517T, was identified by direct sequencing in the proband and his mother. The same mutation was present in the heterozygous state in the proband's father and in the maternal grandmother, both of whom had features of LWD. This C to T transition is predicted to cause an arginine to cysteine amino acid change in a highly conserved region of the recognition helix of the homeodomain, which may reduce the stability of the interaction between the SHOX protein and its target DNA. In addition, the mutation may disrupt a nuclear localization signal in SHOX. This is the first SHOX point mutation identified in a case of LMD, and the first case in which parent to child transmission of LMD has been described.


Assuntos
Proteínas de Homeodomínio/genética , Mutação de Sentido Incorreto , Osteocondrodisplasias/genética , Sequência de Bases , DNA/química , DNA/genética , Análise Mutacional de DNA , Saúde da Família , Feminino , Genes Dominantes , Humanos , Masculino , Osteocondrodisplasias/patologia , Linhagem , Mutação Puntual , Proteína de Homoeobox de Baixa Estatura
13.
Eur J Hum Genet ; 18(12): 1310-4, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-20648051

RESUMO

Mesomelic dysplasia Kantaputra type (MDK) is characterized by marked mesomelic shortening of the upper and lower limbs originally described in a Thai family. To identify the cause of MDK, we performed array CGH and identified two microduplications on chromosome 2 (2q31.1-q31.2) encompassing ∼481 and 507 kb, separated by a segment of normal copy number. The more centromeric duplication encompasses the entire HOXD cluster, as well as the neighboring genes EVX2 and MTX2. The breakpoints of the duplication localize to the same region as the previously identified inversion of the mouse mutant ulnaless (Ul), which has a similar phenotype as MDK. We propose that MDK is caused by duplications that modify the topography of the locus and as such result in deregulation of HOXD gene expression.


Assuntos
Genes Homeobox/genética , Loci Gênicos/genética , Animais , Pareamento de Bases/genética , Doenças do Desenvolvimento Ósseo/genética , Cromossomos Humanos Par 2/genética , Hibridização Genômica Comparativa , Fíbula/anormalidades , Deformidades do Pé/genética , Regulação da Expressão Gênica no Desenvolvimento , Predisposição Genética para Doença , Proteínas de Homeodomínio/genética , Proteínas de Homeodomínio/metabolismo , Humanos , Camundongos , Rádio (Anatomia)/anormalidades , Trissomia/genética , Ulna/anormalidades
14.
Am J Med Genet A ; 140(16): 1726-36, 2006 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-16835913

RESUMO

Frontometaphyseal dysplasia is an X-linked trait primarily characterized by a skeletal dysplasia comprising hyperostosis of the skull and modeling anomalies of the tubular bones. Extraskeletal features include tracheobronchial, cardiac, and urological malformations. A proportion of individuals have missense mutations or small deletions in the X-linked gene, FLNA. We report here our experience with comprehensive screening of the FLNA gene in a group of 23 unrelated probands (11 familial instances, 12 simplex cases; total affected individuals 32) with FMD. We found missense mutations leading to substitutions in the actin-binding domain and within filamin repeats 9, 10, 14, 16, 22, and 23 of filamin A in 13/23 (57%) of individuals in this cohort. Some mutations present with a male phenotype that is characterized by a severe skeletal dysplasia, cardiac, and genitourinary malformations that leads to perinatal death. Although no phenotypic feature consistently discriminates between females with FMD who are heterozygous for FLNA mutations and those in whom no FLNA mutation can be identified, there is a difference in the degree of skewing of X-inactivation between these two groups. This observation suggests that locus heterogeneity may exist for this disorder.


Assuntos
Proteínas Contráteis/genética , Genes Ligados ao Cromossomo X , Variação Genética , Proteínas dos Microfilamentos/genética , Mutação , Osteocondrodisplasias/genética , Adulto , Pré-Escolar , Estudos de Coortes , Feminino , Filaminas , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/patologia , Fenótipo , Radiografia , Inativação do Cromossomo X/genética
15.
Am J Med Genet A ; 128A(1): 6-11, 2004 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-15211647

RESUMO

We present the clinical and radiographic findings in a mother and son with a dominantly inherited mesomelic skeletal dysplasia almost identical to that described in a large Thai family by Kantaputra et al., in which ankle, carpal and tarsal synostoses were noted. The proband in the family is a 48-year-old woman with mesomelic limb shortening, most pronounced in the upper limbs. Her parents were of normal stature and build. Her 15-year-old son has similar mesomelic limb shortening, and in addition talipes equinovarus. Radiological examination showed severe shortening of the radius and ulna with bowing of the radius and dislocation of the radial head. Multiple carpal and tarsal synostoses were present and in addition, the talus and calcaneum were fused. In the original Thai family, linkage to chromosome 2q24-q32, which contains the HOXD cluster has been reported, and it is postulated that the phenotype may result from a disturbance of regulation of the HOXD cluster. Although linkage analysis was not possible in our family, molecular analysis was undertaken and HOXD11 was sequenced, however, no mutations were detected. This is only the second reported family affected with Kantaputra mesomelic dysplasia (MIM 156232), a distinct mesomelic skeletal dysplasia.


Assuntos
Doenças do Desenvolvimento Ósseo/genética , Cromossomos Humanos Par 2 , Adolescente , Tornozelo/anormalidades , Estatura , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Ossos do Carpo/anormalidades , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Radiografia , Síndrome , Ossos do Tarso/anormalidades
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