Case report: ocular manifestations of a gain-of-function mutation in CLCN6, a newly diagnosed disease.
Kimera L, Nadimpalli S, Kurup S, Cole FS, Huang R, Sisco K, Ranaivo HR, Shinawi M, Dickson P, Mian A, Reynolds M, Undiagnosed Diseases Network.
Kimera L, et al. Among authors: nadimpalli s.
Ophthalmic Genet. 2023 Dec 14:1-4. doi: 10.1080/13816810.2023.2291683. Online ahead of print.
Ophthalmic Genet. 2023.
PMID: 38095064