Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly

BACKGROUND: Congenital contractural arachnodactyly (CCA) is an autosomal dominant rare genetic disease, estimated to be less than 1 in 10,000 worldwide. People with this condition often have permanently bent joints (contractures), like bent fingers and toes (camptodactyly). CASE PRESENTATION: In thi...

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Detalles Bibliográficos
Autores principales: Guo, Xingping, Song, Chunying, Shi, Yaping, Li, Hongxia, Meng, Weijing, Yuan, Qinzhao, Xue, Jinjie, Xie, Jun, Liang, Yunxia, Yuan, Yanan, Yu, Baofeng, Wang, Huaixiu, Chen, Yun, Qi, Lixin, Li, Xinmin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5135809/
https://www.ncbi.nlm.nih.gov/pubmed/27912749
http://dx.doi.org/10.1186/s12881-016-0355-6

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