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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Detalles Bibliográficos
Autores principales: Abdelkader, Ehab, Enani, Lama, Schatz, Patrik, Safieh, Leen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010603/
https://www.ncbi.nlm.nih.gov/pubmed/29942180
http://dx.doi.org/10.1016/j.sjopt.2017.10.004

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