Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly

Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder of connective tissue. CCA is characterized by arachnodactyly, camptodactyly, contrature of major joints, scoliosis, pectus deformities, and crumpled ears. The present study aimed to identify the genetic cause of a three-g...

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Detalles Bibliográficos
Autores principales: You, Guoling, Zu, Bailing, Wang, Bo, Wang, Zhigang, Xu, Yunlan, Fu, Qihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412266/
https://www.ncbi.nlm.nih.gov/pubmed/28379158
http://dx.doi.org/10.3390/ijms18040626

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412266/
https://www.ncbi.nlm.nih.gov/pubmed/28379158
http://dx.doi.org/10.3390/ijms18040626

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