Craniofacial studies in chicken embryos confirm the pathogenicity of Frizzled2 variants associated with Robinow syndrome
Shruti S. Tophkhane,
Katherine Fu,
Esther M. Verheyen
et al.
Abstract:Robinow syndrome (RS) is a rare, genetically heterogeneous condition caused by mutations in seven WNT pathway genes. The clinical presentation includes craniofacial widening and jaw hypoplasia. Here we tested the functional impact of two missenseFZD2variants in the frontonasal mass in the chicken embryo, the area homologous to the affected region in RS. Viruses coding for wild-type or variant forms of FZD2 (code for P142L and G434V) inhibited beak ossification in vivo and certain bones failed to differentiate,… Show more
Set email alert for when this publication receives citations?
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.