Article

<i>DVL1</i> variants and C-terminal deletions have differential effects on craniofacial development and WNT signaling

2024-02-29

Abstract excerpt

Robinow Syndrome (RS) is a rare disease characterized by craniofacial malformations and limb shortening linked with mutations in seven WNT pathway genes. Our objective was to investigate the functional effects of frameshift mutations the intracellular adaptor protein, Dishevelled ( DVL1 ; c.1519 Δ T , p.Trp507Glyfs*142) on chicken craniofacial development. Misexpression of wt (wt) or mutant h DVL1 variants in...

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Literature Corpus work: 3da35a8d-9aa5-5c90-bd19-1a76fe6d9a2f
DOI: 10.1101/2024.02.28.582602

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