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Article

[PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD): Genotype-phenotype correlations from a series of 308 cases to improve prenatal counselling].

Nephrologie & therapeutique - 1 Nov 2018

Hamo Suzy, Bacchetta Justine, Bertholet-Thomas Aurélia, Ranchin Bruno, Cochat Pierre, Michel-Calemard Laurence

Abstract excerpt

OBJECTIVES: ARPKD is a recessive rare disease due to PKHD1 mutation. The main objective of the study was to characterize the phenotypic variability according to the different types of PKHD1 mutations. METHODS: This study was performed in 308 ARPKD patients with a genetic diagnosis from our genetic center. Related physicians provided minimal clinical and biological data. RESULTS: Patients were divided into three...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29703621
DOI: 10.1016/j.nephro.2018.03.002

Genes

PKHD1

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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