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
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