A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly

Congenital contractural arachnodactyly (CCA, OMIM: 121050) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS, OMIM: 154700), including contractures, arachnodactyly, dolichostenomelia, scoliosis, crumpled ears and pectus deformities but excluding the ocular an...

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Detalhes bibliográficos
Publicado no:FEBS Open Bio
Main Authors: Liu, Wei, Zhao, Ning, Li, Xue-fu, Wang, Hong, Sui, Yu, Lu, Yong-ping, Feng, Wen-hua, Ma, Chao, Han, Wei-tian, Jiang, Miao
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4359973/
https://ncbi.nlm.nih.gov/pubmed/25834781
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.fob.2015.02.005
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