Open access
Sep 2026
A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans.
Inherited retinal diseases (IRDs) are genetically heterogeneous and often remain unsolved despite advanced sequencing. This study investigated two siblings from a consanguineous Arab-Christian family presenting with a syndromic IRD. Exome sequencing revealed a homozygous frameshift variant (c.1535_1538del:(p.Lys512Argf...
Asodu Sandeep Sarma, Neta Barnoy, P. Gopalakrishnan et al.
· Clinical Genetics · 0 citations