Condition: Acrocephalopolysyndactyly type 2
rs121908171 in
RAB23 gene and
Acrocephalopolysyndactyly type 2
PMID 21412941 2011 Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.
PMID 17503333 2007 RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.
PMID 24458945 2014 Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly.