Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq)

BACKGROUND: Female Dent disease 1 patients with low-molecular-weight proteinuria (LMWP) due to CLCN5 gene mutation were rarely reported, and these cases that the people were also with Turner syndrome (TS) were even hardly documented before. CASE PRESENTATION: Here we report a 3-year and 11-month old...

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Detalles Bibliográficos
Autores principales: Ye, Yuhong, Wang, Jingjing, Quan, Xiaofang, Xu, Ke, Fu, Haidong, Gu, Weiyue, Mao, Jianhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216489/
https://www.ncbi.nlm.nih.gov/pubmed/32393202
http://dx.doi.org/10.1186/s12882-020-01827-4

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