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Article

CRX variants in cone-rod dystrophy and mutation overview.

Biochemical and biophysical research communications - 5 Oct 2012

Huang Li, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Wang Panfeng, Guo Xiangming, Zhang Qingjiong

Abstract excerpt

Mutations in the cone-rod homeobox gene (CRX) are associated with cone-rod dystrophy (CORD), Leber congenital amaurosis (LCA), and, in rare cases, retinitis pigmentosa (RP). In this study, three variations were detected in 3 of 130 families with CORD, including two novel mutations, c.239A>G (p.Glu80Gly) and c.362C>T (p.Ala121Val). So far, 49 mutations in CRX were reported, affecting about 2.35% of LCA, 4.76% of...

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Source

Identifiers

PMID: 22960069
DOI: 10.1016/j.bbrc.2012.08.110

Genes

CRX

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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