A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five‐generation Chinese family

We identified a novel heterozygous mutation (c.4177T>G and p.Cys1393Gly) in FBN2 that cosegregated with congenital contractural arachnodactyly (CCA) in a five‐generation Chinese family. This mutation may cause the loss of the disulfide bond between Cys 1393 and Cys 1378 residues of fibrillin‐2. O...

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Detalles Bibliográficos
Autores principales: Zhou, Shiyuan, Wang, Fengyu, Dou, Yongheng, Zhou, Jiping, Hao, Gefang, Xu, Chengqi, Wang, Qing K., Wang, Haili, Wang, Pengyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099051/
https://www.ncbi.nlm.nih.gov/pubmed/30147916
http://dx.doi.org/10.1002/ccr3.1693

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099051/
https://www.ncbi.nlm.nih.gov/pubmed/30147916
http://dx.doi.org/10.1002/ccr3.1693

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