Whole-exome sequencing and molecular dynamics confirm pathogenicity of a novel SLC6A6 mutation in Leber congenital amaurosis
Abstract Introduction Inherited retinal diseases (IRDs) are a clinically and genetically heterogenous group where the robust advancement of next-generation sequencing technologies has facilitated genotype-assisted diagnosis. Leber congenital amaurosis (LCA) is a severe form of inherited retinal dyst...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
SpringerOpen
2025-02-01
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Series: | Egyptian Journal of Medical Human Genetics |
Subjects: | |
Online Access: | https://doi.org/10.1186/s43042-025-00659-x |