Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing

Objective: Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital nuclear cataracts, dental anomalies, and craniofacial dysmorphisms. Mental retardation was present in about 30% of the reported cases. The purpose of this study was to investigate the genetic and clinical f...

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Main Authors: Hong, Nan, Chen, Yan-hua, Xie, Chen, Xu, Bai-sheng, Huang, Hui, Li, Xin, Yang, Yue-qing, Huang, Ying-ping, Deng, Jian-lian, Qi, Ming, Gu, Yang-shun
Formáid: Artigo
Teanga:Inglês
Foilsithe: Zhejiang University Press 2014
Ábhair:
Biomedicine
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4129093/
https://ncbi.nlm.nih.gov/pubmed/25091991
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1631/jzus.B1300321
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