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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...
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| Publicado no: | Saudi J Ophthalmol |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2018
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| Assuntos: | |
| Acesso em linha: | 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 |
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