Wird geladen...
Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene
PURPOSE: Usher syndrome is the most common cause of deafness associated with visual loss of a genetic origin. The purpose of this paper is to report very severe phenotypic features of type 1B Usher syndrome in a Saudi family affected by positive homozygous splice site mutation in MYO7A gene. METHODS...
Gespeichert in:
| Veröffentlicht in: | Saudi J Ophthalmol |
|---|---|
| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Elsevier
2018
|
| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6010603/ https://ncbi.nlm.nih.gov/pubmed/29942180 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.sjopt.2017.10.004 |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|