ADTKD-UMOD in a girl with a de novo mutation: A case report

Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is a rare condition associated with high variability in the age of end-stage kidney disease (ESKD). An autosomal dominant inheritance is the general rule, but de novo UMOD mutations have been reported. It was rep...

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Detalles Bibliográficos
Autores principales: Li, Meng-shi, Li, Yang, Jiang, Lei, Song, Zhuo-ran, Yu, Xiao-juan, Wang, Hui, Ren, Ya-li, Wang, Su-xia, Zhou, Xu-jie, Yang, Li, Zhang, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808042/
https://www.ncbi.nlm.nih.gov/pubmed/36606057
http://dx.doi.org/10.3389/fmed.2022.1077655

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808042/
https://www.ncbi.nlm.nih.gov/pubmed/36606057
http://dx.doi.org/10.3389/fmed.2022.1077655

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