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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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| Publicado en: | J Ophthalmic Vis Res |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
PUBLISHED BY KNOWLEDGE E
2019
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6825708/ https://ncbi.nlm.nih.gov/pubmed/31875109 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18502/jovr.v14i4.5467 |
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