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[Identification of novel mutations of SLC4A11 gene in patients with congenital hereditary endothelial dystrophy].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 11 Feb 2021

Li Y, Zhang J, Xu J J

Abstract excerpt

Objective: To identify the potential pathogenic variants in patients with congenital hereditary endothelial dystrophy (CHED). Methods: A retrospective study. Six CHED patients were recruited from the Department of Ophthalmology at the Eye and ENT Hospital of Fudan University from August 2017 to September 2018. They were all males, and were 7 to 29 years old at the time of consultation, with an average age of 20.5...

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PMID: 33541055
DOI: 10.3760/cma.j.cn112142-20200611-00387

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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