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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5219716/
https://www.ncbi.nlm.nih.gov/pubmed/28061824
http://dx.doi.org/10.1186/s12881-016-0360-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5219716/
https://www.ncbi.nlm.nih.gov/pubmed/28061824
http://dx.doi.org/10.1186/s12881-016-0360-9

Ejemplares similares