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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9325342/
https://www.ncbi.nlm.nih.gov/pubmed/35919034
http://dx.doi.org/10.1155/2022/1473260

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9325342/
https://www.ncbi.nlm.nih.gov/pubmed/35919034
http://dx.doi.org/10.1155/2022/1473260

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