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Article

Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2021

Durkie Miranda, Chong Jiehan, Valluru Manoj K, Harris Peter C, Ong Albert C M

Abstract excerpt

PURPOSE: To investigate the prevalence of biallelic PKD1 and PKD2 variants underlying very early onset (VEO) polycystic kidney disease (PKD) in a large international pediatric cohort referred for clinical indications over a 10-year period (2010-2020). METHODS: All samples were tested by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) of PKD1 and PKD2 genes and/or a next-generation...

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Identifiers

PMID: 33168999
DOI: 10.1038/s41436-020-01026-4
PMCID: PMC9782736

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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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