Lawrencia Kimera, Sameera Nadimpalli, Sudhi Kurup, F. Sessions Cole, Russell Huang, Kathleen Sisco, Hantamalala Ranay Ranaivo, Marwan Shinawi, Patricia Dickson, Ali Mian, Margaret Reynolds, Undiagnosed Diseases Network
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引用次数: 0
Abstract
In 2020, a new disease was reported by Polovitskaya et al., caused by a monoallelic, gain-of-function mutation in CLCN6, encoding the ClC-6 Cl−/H±exchanger.Here, we report the ophthalmic findings o...
期刊介绍：
Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.
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