Associated Papers
Pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics.
Zhang C et al.
Biorxiv : the Preprint Server for Biology, 2025
Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form.
Shayota BJ et al.
American Journal of Medical Genetics. Part A, 2020
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
White J et al.
American Journal of Human Genetics, 2015
Select a paper to view details