病例报告：CLCN6 功能增益突变的眼部表现，一种新诊断的疾病

IF 1.2 4区医学 Q4 GENETICS & HEREDITY Ophthalmic Genetics Pub Date : 2023-12-14 DOI:10.1080/13816810.2023.2291683

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

摘要

2020年，Polovitskaya等人报道了一种新的疾病，由编码ClC-6 Cl−/H±交换器的CLCN6单等位基因功能获得突变引起。在此，我们报告…

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Case report: ocular manifestations of a gain-of-function mutation in CLCN6, a newly diagnosed disease

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...

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来源期刊

Ophthalmic Genetics 医学-眼科学

CiteScore

2.40

自引率

8.30%

发文量

126

审稿时长

>12 weeks

期刊介绍： Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.