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Article

PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).

Human mutation - 1 May 2004

Bergmann Carsten, Senderek Jan, Schneider Frank, Dornia Christian, Küpper Fabian, Eggermann Thomas, Rudnik-Schöneborn Sabine, Kirfel Jutta, Moser Markus, Büttner Reinhard, Zerres Klaus

Abstract excerpt

Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary renal cystic diseases in children. The clinical spectrum ranges from stillbirth and neonatal demise to survival into adulthood. In a given family, however, patients usually display comparable phenotypes. Many families who lost a child with severe ARPKD desire an early and reliable prenatal diagnosis (PD). Given the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15108281
DOI: 10.1002/humu.20019

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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