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

Por 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
Publicado no BMC Med Genet (2016)