Cargando…
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...
| Autores principales: | , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2017
|
| Materias: | |
| 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 |