Novel pathogenic OCRL mutations and genotype–phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review

BACKGROUND: Oculocerebrorenal syndrome of Lowe is a rare X-linked disorder characterized by congenital cataracts, mental retardation, and proximal tubulopathy. This condition is caused by a mutation of OCRL gene (located at chromosome Xq26.1), which encodes an inositol polyphosphate 5-phosphatase. C...

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Detalles Bibliográficos
Autores principales: Zhang, Yu, Deng, Linxia, Chen, Xiaohong, Hu, Yingjie, Chen, Yaxian, Chen, Kang, Zhou, Jianhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8422650/
https://www.ncbi.nlm.nih.gov/pubmed/34488756
http://dx.doi.org/10.1186/s12920-021-01069-9

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