Article

Dkk1 inhibition normalizes limb phenotypes in a mouse model of <i>Fzd2</i> associated omodysplasia Robinow syndromes

2022-06-03

Abstract excerpt

<h4>ABSTRACT</h4> FRIZZLED-2 (FZD2) is a transmembrane Wnt ligand receptor. We previously identified a pathogenic human FZD2 variant, encoding for a protein with a premature stop and loss of 17 amino acids. This includes a portion of the consensus DISHEVELLED binding sequence required for Wnt signal transduction. Patients with this variant exhibited FZD2-associated autosomal dominant Robinow Syndrome. To model t...

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Literature Corpus work: 6f193a2d-a86f-5ced-bbea-9cfd6a048e99
DOI: 10.1101/2022.06.02.494481

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