Associated Papers
Craniofacial studies in chicken embryos confirm the pathogenicity of human FZD2 variants associated with Robinow syndrome.
Tophkhane SS et al.
Disease Models & Mechanisms, 2024
FZD2 regulates limb development by mediating β-catenin-dependent and -independent Wnt signaling pathways.
Zhu X et al.
Disease Models & Mechanisms, 2023
Successful therapeutic intervention in new mouse models of frizzled 2-associated congenital malformations.
Liegel RP et al.
Development (cambridge, England), 2023
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
Zhang C et al.
Hgg Advances, 2022
35047859 (PubMed )
Supplement: mmc1.pdf
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
White JJ et al.
American Journal of Human Genetics, 2018
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