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

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

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...

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Main Authors: Lingxia Zhang, Shugang Wang, Ruoque Mao, Haidong Fu, Jingjing Wang, Huijun Shen, Zhihong Lu, Junyi Chen, Yu Bao, Chunyue Feng, En Yin Lai, Qing Ye, Jianhua Mao
Format: Article
Language:English
Published: Wiley 2022-01-01
Series:Genetics Research
Online Access:http://dx.doi.org/10.1155/2022/1473260
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http://dx.doi.org/10.1155/2022/1473260

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