Article

A homozygous human <i>WNT11</i> loss-of-function variant associated with laterality, heart and renal defects

2024-11-15

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 we used Xenopus embryos to functionally characterize this variant. WNT11 c.814delG encodes a loss-of-function protein wit...

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Literature Corpus work: 9acd2958-3dd0-5d4f-88b0-5a57983828eb
DOI: 10.1101/2024.11.14.623711

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