Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1.
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DOI: 10.1080/13816810.2023.2215332
Abstract: BACKGROUND The sodium channel and clathrin linker 1 gene (SCLT1) has been involved in the pathogenesis of various ciliopathy disorders such as Bardet-Biedl syndrome, orofaciodigital syndrome type IX, and Senior-Løken syndrome. Detailed exams are warranted… read more here.
Keywords: cone photoreceptor; function; reduced cone; photoreceptor function ... See more keywords