Associated Papers
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.
Khairat R et al.
European Journal of Medical Genetics, 2022
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
Hendricks AE et al.
Scientific Reports, 2017
28663568 (PubMed )
Supplement: 41598_2017_3054_MOESM1_ESM.xlsx › Supplementary_Table_2
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
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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