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[Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 1 Feb 2010

Qi Yan-hua, Dang Xiu-hong, Su Hong, Zhou Nan, Liang Ting, Wang Zheng, Huang Shang-zhi

Abstract excerpt

OBJECTIVE: The aim of this study was to identify mutations of CHST6 gene in a Chinese family with macular corneal dystrophy (MCD) and to investigate the histopathological changes of MCD. METHODS: Corneal button of the proband was obtained from penetrating keratoplasty for the treatment of severe corneal dystrophy. The sections and ultrathin sections of this specimen were examined under light microscope and...

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Source

Identifiers

PMID: 20388351

Genes

CHST6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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