Associated Papers
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.
Watts LM et al.
European Journal of Human Genetics : Ejhg, 2024
38760421 (PubMed )
Supplement: 41431_2024_1624_MOESM3_ESM.xlsx › Sheet1
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 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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