Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease

PURPOSE: Norrie disease (ND) is a rare X-linked genetic disorder, the main symptoms of which are congenital blindness and white pupils. It has been reported that ND is caused by mutations in the NDP gene. Although many mutations in NDP have been reported, the genetic cause for many patients remains...

Descripción completa

Detalles Bibliográficos
Autores principales: Huang, Xiaoyan, Tian, Mao, Li, Jiankang, Cui, Ling, Li, Min, Zhang, Jianguo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5700585/
https://www.ncbi.nlm.nih.gov/pubmed/29133643
http://dx.doi.org/10.4103/ijo.IJO_442_17

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5700585/
https://www.ncbi.nlm.nih.gov/pubmed/29133643
http://dx.doi.org/10.4103/ijo.IJO_442_17

Ejemplares similares