Condition: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
rs797044833
in
DVL1
gene and
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
PMID 25817016
2015 DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
PMID 29276006
2018 WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
PMID 26924530
2016 DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.