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
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
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
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Normand EA et al.
Genome Medicine, 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
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
White J et al.
American Journal of Human Genetics, 2015
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