Case report: ocular manifestations of a gain-of-function mutation in <i>CLCN6</i> , a newly diagnosed disease-Reference-Cited by-全球学者库

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

Published:2023-12-14 Issue: Volume: Page:1-4
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Kimera Lawrencia¹,Nadimpalli Sameera²,Kurup Sudhi²³,Cole F. Sessions⁴⁵,Huang Russell³,Sisco Kathleen⁶,Ranaivo Hantamalala Ranay²,Shinawi Marwan⁶^ORCID,Dickson Patricia⁶,Mian Ali⁷,Reynolds Margaret¹^ORCID,Undiagnosed Diseases Network

Affiliation:

1. Department of Ophthalmology and Visual Sciences, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA

2. Division of Ophthalmology, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, Illinois, USA

3. Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA

4. Department of Pediatrics, Division of Neonatal Medicine, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA

5. Department of Cell and Molecular Biology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA

6. Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA

7. Department of Radiology, Section of Neuroradiology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA

Funder

Office of Strategic Coordination

National Institutes of Health

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2023.2291683

Reference13 articles.

1. Exploring human genomic diversity with gnomAD

2. GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

3. A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl−/H+-Exchanger, Causes Early-Onset Neurodegeneration

4. Optic Nerve Head Swelling and Optic Atrophy in the Systemic Mucopolysaccharides