Associated Papers
Local Misalignment Scoring Reveals Spatially Uniform Chondrocyte Disorganization in a Wnt5a-C83S Knock-in Model of Robinow Syndrome.
Zhong ZA et al.
Research Square, 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
Mechanistic studies in Drosophila and chicken give new insights into functions of DVL1 in dominant Robinow syndrome.
Gignac SJ et al.
Disease Models & Mechanisms, 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
Robinow syndrome skeletal phenotypes caused by the WNT5AC83S variant are due to dominant interference with chondrogenesis.
Gignac SJ et al.
Human Molecular Genetics, 2019
Abnormal WNT5A Signaling Causes Mandibular Hypoplasia in Robinow Syndrome.
Hosseini-Farahabadi S et al.
Journal of Dental Research, 2017
Variants in the Regulatory Region of WNT5A Reduced Risk of Cardiac Conotruncal Malformations in the Chinese Population.
Li P et al.
Scientific Reports, 2015
De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.
Roifman M et al.
Clinical Genetics, 2015
Disulfide bond requirements for active Wnt ligands.
MacDonald BT et al.
The Journal of Biological Chemistry, 2014
WNT5A mutations in patients with autosomal dominant Robinow syndrome.
Person AD et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2010
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