Associated Papers
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.
Ben-Salem S et al.
Molecular Syndromology, 2013
RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome.
Alessandri JL et al.
American Journal of Medical Genetics. Part A, 2010
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.
Jenkins D et al.
American Journal of Human Genetics, 2007
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