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Article

Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease.

Pediatric nephrology (Berlin, Germany) - 1 Nov 2022

Hertz Jens Michael, Svenningsen Per, Dimke Henrik, Engelund Morten Buch, Nørgaard Hanne, Hansen Anita, Marcussen Niels, Thiesson Helle Charlotte, Bergmann Carsten, Larsen Martin J

Abstract excerpt

BACKGROUND: Autosomal recessive polycystic kidney disease is a cystic kidney disease with early onset and clinically characterized by enlarged echogenic kidneys, hypertension, varying degrees of kidney dysfunction, and liver fibrosis. It is most frequently caused by sequence variants in the PKHD1 gene, encoding fibrocystin. In more rare cases, sequence variants in DZIP1L are seen, encoding the basal body protein...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35211789
DOI: 10.1007/s00467-022-05441-4
PMCID: PMC9489574

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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