Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis
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DOI: 10.1002/mgg3.2494
Abstract: We clinically and genetically evaluated a Taiwanese boy presenting with developmental delay, organomegaly, hypogammaglobulinemia and hypopigmentation without osteopetrosis. Whole‐exome sequencing revealed a de novo gain‐of‐function variant, p.Tyr715Cys, in the C‐terminal domain of ClC‐7 encoded by… read more here.
Keywords: osteopetrosis; multisystem disorder; variant; pathogenic variant ... See more keywords