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Article

Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy.

Molecular vision - 1 Jan 2014

Fei Ping, Zhang Qi, Huang Luling, Xu Yu, Zhu Xiong, Tai Zhengfu, Gong Bo, Ma Shi, Yao Quanyao, Li Jing, Zhao Peiquan, Yang Zhenglin

Abstract excerpt

PURPOSE: To investigate the clinical features and disease-causing mutations in two Chinese families with familial exudative vitreoretinopathy (FEVR). METHODS: Clinical data and genomic DNA were collected for patients with FEVR. The coding exons and adjacent intronic regions of FZD4, LRP5, TSPAN12...

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Source

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Identifiers

PMID: 24715757
PMCID: PMC3976684

Genes

LRP5
FZD4
NDP
TSPAN12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24715757-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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