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Article

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

BMC nephrology - 9 May 2014

Plumb Lucy A, Marlais Matko, Bierzynska Agnieszka, Martin Howard, Brugger Kim, Abbs Stephen, Saleem Moin A

Abstract excerpt

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 been identified. Knowledge of the genetics of this phenotype has provided important clues to developmental pathways...

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Source

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Identifiers

PMID: 24886545
DOI: 10.1186/1471-2369-15-76
PMCID: PMC4036736

Genes

REN
UMOD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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