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A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report

RATIONALE: Mutations in the hepatocyte nuclear factor-1-beta (HNF1B) gene result in a very variable presentation, including maturity onset diabetes of the young (MODY), renal cysts, renal dysplasia, and autosomal dominant tubulointerstitial kidney disease (ADTKD), which is characterized by tubular d...

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Detalles Bibliográficos
Autores principales:	Tao, Tian, Yang, Yuan, Hu, Zhangxue
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2020
Materias:	3500
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7402722/ https://www.ncbi.nlm.nih.gov/pubmed/32756155 http://dx.doi.org/10.1097/MD.0000000000021438

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