A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family

BACKGROUND: Nance-Horan Syndrome (NHS) (OMIM: 302350) is a rare X-linked developmental disorder characterized by bilateral congenital cataracts, with occasional dental anomalies, characteristic dysmorphic features, brachymetacarpia and mental retardation. Carrier females exhibit similar manifestatio...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Tian, Qi, Li, Yunping, Kousar, Rizwana, Guo, Hui, Peng, Fenglan, Zheng, Yu, Yang, Xiaohua, Long, Zhigao, Tian, Runyi, Xia, Kun, Lin, Haiying, Pan, Qian
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5219716/
https://ncbi.nlm.nih.gov/pubmed/28061824
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0360-9
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