Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome

Cardiospondylocarpofacial (CSCF) syndrome is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations. Whole-e...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Le Goff, Carine, Rogers, Curtis, Le Goff, Wilfried, Pinto, Graziella, Bonnet, Damien, Chrabieh, Maya, Alibeu, Olivier, Nistchke, Patrick, Munnich, Arnold, Picard, Capucine, Cormier-Daire, Valérie
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4974068/
https://ncbi.nlm.nih.gov/pubmed/27426734
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.06.005
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