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Article

A homozygous human WNT11 variant is associated with laterality, heart and renal defects.

Disease models & mechanisms - 1 May 2025

Berns Henrike, Weber Damian, Haas Maximilian, Bakey Zeineb, Brislinger-Engelhardt Magdalena Maria, Schmidts Miriam, Walentek Peter

Abstract excerpt

Wnt signaling plays important roles during vertebrate development, including left-right axis specification as well as heart and kidney organogenesis. We identified a homozygous human WNT11 variant in an infant with situs inversus totalis, complex heart defects and renal hypodysplasia, and used Xenopus embryos to functionally characterize this variant. WNT11c.814delG encodes a protein with reduced stability that...

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Identifiers

PMID: 40200693
DOI: 10.1242/dmm.052211
PMCID: PMC12091873

Genes

WNT11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 18 Oct 2026.

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