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Article

Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome.

Investigative ophthalmology & visual science - 18 Nov 2014

Chen Peng, Dai Yunhai, Wu Xiaoming, Wang Ye, Sun Shiying, Xiao Jingjing, Zhang Qingyan, Guan Liping, Zhao Xiaowen, Hao Xiaodan, Wu Renhua, Xie Lixin

Abstract excerpt

PURPOSE: Cataract-microcornea syndrome (CCMC) is an autosomal dominant inherited disease characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Although mutations of several genes have been shown to cause dominant CCMC, in many patients the causative gene has not yet been identified. Our aim was to identify the disease-associated gene in Chinese...

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Identifiers

PMID: 25406294
DOI: 10.1167/iovs.14-14098

Genes

ABCA3

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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