A novel small deletion in the NHS gene associated with Nance-Horan syndrome

Nance-Horan syndrome is a rare X-linked recessive inherited disease with clinical features including severe bilateral congenital cataracts, characteristic facial and dental abnormalities. Data from Chinese Nance-Horan syndrome patients are limited. We assessed the clinical manifestations of a Chines...

Descripción completa

Detalles Bibliográficos
Autores principales: Li, Huajin, Yang, Lizhu, Sun, Zixi, Yuan, Zhisheng, Wu, Shijing, Sui, Ruifang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799206/
https://www.ncbi.nlm.nih.gov/pubmed/29402928
http://dx.doi.org/10.1038/s41598-018-20787-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799206/
https://www.ncbi.nlm.nih.gov/pubmed/29402928
http://dx.doi.org/10.1038/s41598-018-20787-2

Ejemplares similares