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Article

A Novel Mutation in the NDP Gene is Associated with Familial Exudative Vitreoretinopathy in a Southern Chinese Family.

Genetic testing and molecular biomarkers - 1 Dec 2019

Bao Yun, Yang Jingmin, Chen Lu, Chen Miaohong, Zhao Peiquan, Qiu Shuiping, Zhang Lu, Zhang Guoming

Abstract excerpt

Aims: To report a clinical and genetic investigation of a southern Chinese family with X-linked recessive exudative vitreoretinopathy and vitreous hemorrhage. Materials and Methods: We collected clinical data from a proband and his family. Complete ophthalmic examinations were carried out on the proband. Genomic DNA was sampled from either peripheral blood or buccal swabs of 13 individuals, and whole exome...

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Source

Identifiers

PMID: 31821093
DOI: 10.1089/gtmb.2019.0099

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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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