Case report: ocular manifestations of a gain-of-function mutation in CLCN6 , a newly diagnosed disease.
Lawrencia KimeraSameera NadimpalliSudhi KurupF Sessions ColeRussell HuangKathleen SiscoHantamalala Ranay RanaivoMarwan S ShinawiPatricia DicksonAli MianMargaret M Reynoldsnull Undiagnosed Diseases NetworkPublished in: Ophthalmic genetics (2023)
c.1658A>G (p.Tyr553Cys) variant displayed significant developmental delay and neurodegeneration.
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