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Retinitis pigmentosa is a heterogeneous group of inherited retinal diseases leading to progressive vision loss. It has been estimated that the etiology is still unclear in 22%‐40% of cases, indicating… Click to show full abstract
Retinitis pigmentosa is a heterogeneous group of inherited retinal diseases leading to progressive vision loss. It has been estimated that the etiology is still unclear in 22%‐40% of cases, indicating that many novel pathogenic variations related to RP remain unidentified in many patients. In this study, our aim was to investigate the disease‐causing variants and function of the variants in two Chinese families with non‐syndromic autosomal dominant retinitis pigmentosa (adRP).
Keywords:
chinese families;
syndromic autosomal;
retinitis pigmentosa;
non syndromic;
retinitis;
families non
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2020
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2020
Link to full text (if available)
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recommendations!