Associated Papers
Carpenter syndrome in a patient from Tanzania.
Lodhia J et al.
American Journal of Medical Genetics. Part A, 2021
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
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.
Jenkins D et al.
Human Mutation, 2011
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