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Article

[Analysis of LRP5 gene variants in a Chinese pedigree affected with Osteoporosis-pseudoglioma syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2022

Bai Zhouxian, Jiao Zhihui, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a Chinese pedigree with two individuals suffering from congenital blindness. METHODS: Clinical data and peripheral blood samples of the pedigree were collected. Whole exome sequencing was carried out. Suspected variants were verified by Sanger sequencing. Pathogenicity of candidate variants was validated through searching of PubMed and related databases, and analyzed...

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Identifiers

PMID: 35076916
DOI: 10.3760/cma.j.cn511374-20201125-00828

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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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