Case Report: Adolescent-Onset Isolated Nephronophthisis Caused by a Novel Homozygous Inversin Mutation

Objective: Nephronophthisis (NPHP) is a rare autosomal recessive inherited kidney disease that can cause cystic enlargement of the kidneys, and lead to end-stage renal disease (ESRD) before the age of 30 years. Herein we describe a case of adolescent-onset NPHP with a novel homozygous mutation in th...

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Detalles Bibliográficos
Autores principales: Zhong, Zhengxia, Yan, Xiaoyong, Fang, Zhengying, Dong, Yijun, Tan, Jiaxing, Xie, Jingyuan, Hu, Linhong, Zhang, Shibin, Qin, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9157817/
https://www.ncbi.nlm.nih.gov/pubmed/35664325
http://dx.doi.org/10.3389/fgene.2022.847397

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9157817/
https://www.ncbi.nlm.nih.gov/pubmed/35664325
http://dx.doi.org/10.3389/fgene.2022.847397

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