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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...

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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 4 Sept 2026. Prepared record publication-25193386-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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