Associated Papers
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
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia A et al.
Orphanet Journal of Rare Diseases, 2021
34627339 (PubMed )
Supplement: 13023_2021_2025_MOESM1_ESM.xlsx › Sheet2
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
White JJ et al.
American Journal of Human Genetics, 2018
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