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Article

Identification of a novel CACNA1F mutation in a Chinese family with CORDX3.

Molecular genetics & genomic medicine - 1 Nov 2022

Du Meng, Li Yang, Zheng Panpan, Zhong Liang, Zhao Weili, Zhang Yuxin, Gu Haiyan, Li Xue, Liu Zanchao

Abstract excerpt

BACKGROUND: X-linked cone-rod dystrophy (CORDX) is one form of inherited retinal disorders (IRDs) characterized by progressive dysfunction of photoreceptor. Three types of CORDX were reported and CACNA1F gene defect can cause CORDX3. The aim of this study was to investigate the pathogenic variant in a Chinese family with IRD. METHODS: The two affected subjects including the proband and his elder sister underwent...

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Identifiers

PMID: 36165086
DOI: 10.1002/mgg3.2060
PMCID: PMC9651601

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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