Associated Papers
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.
Khairat R et al.
European Journal of Medical Genetics, 2022
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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