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
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation.
Danyel M et al.
American Journal of Medical Genetics. Part A, 2018
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
White JJ et al.
American Journal of Human Genetics, 2016
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