Condition: Robinow syndrome, autosomal recessive
rs121909083
in
ROR2
gene and
Robinow syndrome, autosomal recessive
PMID 10932186
2000 Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.
PMID 10932187
2000 Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.
PMID 19640924
2009 A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.