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Article

Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD.

Pediatric nephrology (Berlin, Germany) - 1 Feb 2015

Lambie Lindsay, Amin Rasheda, Essop Fahmida, Cnaan Avital, Krause Amanda, Guay-Woodford Lisa M

Abstract excerpt

BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD; MIM 263200) occurs in 1:20,000 live births. Disease expression is widely variable, with approximately 30 % of affected neonates dying perinatally, while others survive to adulthood. Mutations at the PKHD1 locus are responsible for all typical presentations. The objectives of this study were to define the clinical and genetic characteristics in a...

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Source

Identifiers

PMID: 25193386
DOI: 10.1007/s00467-014-2917-1

Genes

PKHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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