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Article

Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.

PloS one - 1 Jan 2012

Wang Yun, Guo Liheng, Cai Su-Ping, Dai Meizhi, Yang Qiaona, Yu Wenhan, Yan Naihong, Zhou Xiaomin, Fu Jin, Guo Xinwu, Han Pengfei, Wang Jun, Liu Xuyang

Abstract excerpt

Retinitis pigmentosa (RP) is a heterogeneous group of progressive retinal degenerations characterized by pigmentation and atrophy in the mid-periphery of the retina. Twenty two subjects from a four-generation Chinese family with RP and thin cornea, congenital cataract and high myopia is reported in this study. All family members underwent complete ophthalmologic examinations. Patients of the family presented with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 22693542
DOI: 10.1371/journal.pone.0033673
PMCID: PMC3365069

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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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