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Article

Biallelic WDR19 Variants: Systematic Analysis of Genotype-Phenotype Correlations.

Human mutation - 1 Jan 2026

Webster Zoe, Woods Lisa, Dalziel Robert, Drake Kylie, de Valles-Ibáñez Guillem, Poke Gemma

Abstract excerpt

Ciliopathies represent a diverse group of inherited disorders resulting from dysfunctional cilia. A rare subset is associated with biallelic variants in WDR19, with fewer than 100 affected individuals reported worldwide. This study is aimed at reviewing the clinical and molecular spectrum of WDR19-associated ciliopathies, with a particular focus on genotype-phenotype correlations. We report a 32-year-old woman...

Read the complete abstract on PubMed

Topics

Humans
Female
Adult
Genetic Association Studies
Phenotype
Alleles
Cytoskeletal Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Intracellular Signaling Peptides and Proteins

Mutation, Missense

Mutation

Proteins

Genotype

Source

Open in PubMed Open full text

Identifiers

PMID: 42756616
DOI: 10.1155/humu/9449547
PMCID: PMC13583927

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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