Associated Papers
[Omodysplasia Type II - first publication of de novo Mutation in FZD2 Gene].
Jurk S et al.
Zeitschrift Fur Geburtshilfe Und Neonatologie, 2025
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
Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations.
Warren HE et al.
Clinical Case Reports, 2018
Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes.
Nagasaki K et al.
American Journal of Medical Genetics. Part A, 2018
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