Condition: CARPENTER SYNDROME 1
rs765443042 in
RAB23 gene and
CARPENTER SYNDROME 1
PMID 21412941 2011 Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.
PMID 23599695 2013 A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family.