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Article

An Ashkenazi founder mutation in the PKHD1 gene.

European journal of medical genetics - 1 Feb 2016

Quint Adina, Sagi Michal, Carmi Shai, Daum Hagit, Macarov Michal, Ben Neriah Ziva, Meiner Vardiela, Elpeleg Orly, Lerer Israela

Abstract excerpt

Autosomal recessive polycystic kidney disease (ARPKD) is usually detected late in pregnancies in embryos with large echogenic kidneys accompanied by oligohydramnios. Hundreds of private pathogenic variants have been identified in the large PKHD1 gene in various populations. Yet, because of the large size of the gene, segregation analysis of microsatellite polymorphic markers residing in the PKDH1 locus has...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26721323
DOI: 10.1016/j.ejmg.2015.12.013

Genes

PKHD1

Variants

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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