Article

Craniofacial studies in chicken embryos confirm the pathogenicity of Frizzled2 variants associated with Robinow syndrome

2023-11-08

Abstract excerpt

<h4>ABSTRACT</h4> Robinow syndrome (RS) is a rare disease caused by mutations in seven WNT pathway genes. Features include craniofacial widening and jaw hypoplasia. We used the chicken embryo to test two autosomal dominant RS (ADRS) missense FZD2 variants on the frontonasal mass, the affected region in RS. The wild-type (wt) and variant h FZD2 inhibited beak ossification. The bone hypoplasia was possibly mediat...

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Literature Corpus work: 8af0caa5-d6b9-53b9-a934-4d3cd838491e
DOI: 10.1101/2023.11.07.565956

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