CRB1 Gene Mutation Causing Different Phenotypes of Leber Congenital Amaurosis in Siblings

PURPOSE: We report a rare case of CRB1gene mutation in two siblings (sisters) affected with the exact same genetic mutation on both CRB1genes resulting in varying phenotypes. CASE REPORT: CRB1gene mutation in this case has resulted in causing varying degrees of Leber congenital amaurosis (LCA) in bo...

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Detalles Bibliográficos
Autores principales: Khan, Shaheryar Ahmed, Nestel, Achim Richard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PUBLISHED BY KNOWLEDGE E 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825708/
https://www.ncbi.nlm.nih.gov/pubmed/31875109
http://dx.doi.org/10.18502/jovr.v14i4.5467

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825708/
https://www.ncbi.nlm.nih.gov/pubmed/31875109
http://dx.doi.org/10.18502/jovr.v14i4.5467

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