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Article

Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy.

BMC ophthalmology - 15 Feb 2021

Jia Li-Yun, Ma Kai

Abstract excerpt

PURPOSE: This study aims to analyze the Norrie disease gene (NDP) variants in patients with familial exudative vitreoretinopathy (FEVR) and their clinical features. METHODS: Thirty-three Chinese patients (22 familial and 11 simplex) who were diagnosed as FEVR underwent detailed ocular examinations in Beijing Tongren Hospital. Peripheral venous blood was drawn from the patients and their family members for the...

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Identifiers

PMID: 33588793
DOI: 10.1186/s12886-021-01852-3
PMCID: PMC7885586

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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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