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Article

De novo mutations in the cone-rod homeobox gene associated with leber congenital amaurosis in Chinese patients.

Ophthalmic genetics - 1 Mar 2015

Zou Xuan, Yao Fengxia, Liang Xiaofang, Xu Fei, Li Hui, Sui Ruifang, Dong Fangtian

Abstract excerpt

BACKGROUND: The cone-rod homeobox (CRX) gene plays an important role in photoreceptor development. Recently, mutant alleles of the CRX gene have been associated with autosomal dominant Leber congenital amaurosis (LCA) and cone-rod dystrophy. The purpose of this study was to analyze the CRX mutations in a cohort of Chinese patients with LCA or early-onset severe retinal dystrophy (EOSRD) and to provide the...

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Source

Identifiers

PMID: 24001014
DOI: 10.3109/13816810.2013.827219

Genes

CRX

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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