Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathy

BACKGROUND: Familial juvenile hyperuricaemic nephropathy is a rare inherited nephropathy with genetic heterogeneity. Categorised by genetic defect, mutations in uromodulin (UMOD), renin (REN) and hepatocyte nuclear factor-1β (HNF-1β) genes as well as linkage to chromosome 2p22.1-21 have previously b...

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Detalhes bibliográficos
Main Authors: Plumb, Lucy A, Marlais, Matko, Bierzynska, Agnieszka, Martin, Howard, Brugger, Kim, Abbs, Stephen, Saleem, Moin A
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4036736/
https://ncbi.nlm.nih.gov/pubmed/24886545
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2369-15-76
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