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A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease: a case report

BACKGROUND: Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by a pathogenic variant in UMOD (ADTKD-UMOD) is a rare group of diseases characterized by hyperuricaemia with decreased urinary excretion of urate, gout and progressive chronic kidney disease. The mundane clinical charac...

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Detalles Bibliográficos
Autores principales:	Wang, Ying, Liu, Haibo, He, Qingnan, Yi, Zhuwen, Li, Yongzhen, Dang, Xiqiang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7449067/ https://www.ncbi.nlm.nih.gov/pubmed/32847529 http://dx.doi.org/10.1186/s12882-020-02022-1

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