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Article

Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations.

Genetics research - 1 Jan 2022

Zhang Lingxia, Wang Shugang, Mao Ruoque, Fu Haidong, Wang Jingjing, Shen Huijun, Lu Zhihong, Chen Junyi, Bao Yu, Feng Chunyue, Lai En Yin, Ye Qing, Mao Jianhua

Abstract excerpt

Background: Both Lowe syndrome and Dent-2 disease are caused by variants in the OCRL gene. However, the reason why patients with similar OCRL gene mutations presented with different phenotypes remains uncertain. Methods: Children with hemizygous pathogenic or likely pathogenic variants in OCRL were compiled from published and unpublished consecutive cases from China. Furthermore, a Chi-square test was employed to...

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Identifiers

PMID: 35919034
DOI: 10.1155/2022/1473260
PMCID: PMC9325342

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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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