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Article

Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy.

Molecular medicine reports - 1 Jun 2013

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

Abstract excerpt

Cone-rod dystrophy (CORD) is a hereditary retinal disorder with primary cone impairment and subsequent rod involvement. To date, mutations responsible for CORD have been reported in 24 genes. However, the systemic evaluation of variants in these genes in a cohort of patients is rare, particularly in East Asia. In this study, 58 coding exons from 20 CORD genes, including 35 exons with previously identified...

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Source

Identifiers

PMID: 23563732
DOI: 10.3892/mmr.2013.1415

Genes

PRPH2
KCNV2

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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