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Article

A novel compound heterozygous PCDH15 variants is associated with arRP in a Chinese pedigree.

BMC ophthalmology - 26 Aug 2024

Yang Hong, Zhang Ya-Juan, Zhu Li, Zheng Wei-Yi, Shi Mei-Yu, Zhao Wen-Rui, Zhao Hong-Chao

Abstract excerpt

BACKGROUND: Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases. However, it is still not well understand about the relationship between PCDH15 variants and RP. METHODS: In this study, we enrolled a Chinese autosomal recessive retinitis pigmentosa (arRP) pedigree and identified the causative gene in the proband by targeted whole exome sequencing (WES). The variants were validated in...

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Identifiers

PMID: 39187782
DOI: 10.1186/s12886-024-03640-1
PMCID: PMC11345949

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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