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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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Detalles Bibliográficos
Autores principales:	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:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2015
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4359973/ https://www.ncbi.nlm.nih.gov/pubmed/25834781 http://dx.doi.org/10.1016/j.fob.2015.02.005

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