Associated Papers
[Omodysplasia Type II - first publication of de novo Mutation in FZD2 Gene].
Jurk S et al.
Zeitschrift Fur Geburtshilfe Und Neonatologie, 2025
Craniofacial studies in chicken embryos confirm the pathogenicity of human FZD2 variants associated with Robinow syndrome.
Tophkhane SS et al.
Disease Models & Mechanisms, 2024
Successful therapeutic intervention in new mouse models of frizzled 2-associated congenital malformations.
Liegel RP et al.
Development (cambridge, England), 2023
Dominant omodysplasia-A sporadic case-A new case report and review of the literature.
Arabzadeh A et al.
Clinical Case Reports, 2022
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 and Bone: Lessons From Skeletal Dysplasias and Disorders.
Huybrechts Y et al.
Frontiers in Endocrinology, 2020
Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations.
Warren HE et al.
Clinical Case Reports, 2018
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
White JJ et al.
American Journal of Human Genetics, 2018
A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia.
Türkmen S et al.
Molecular Syndromology, 2017
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