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Article

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.

Human mutation - 1 Apr 2011

Jenkins Dagan, Baynam Gareth, De Catte Luc, Elcioglu Nursel, Gabbett Michael T, Hudgins Louanne, Hurst Jane A, Jehee Fernanda Sarquis, Oley Christine, Wilkie Andrew O M

Abstract excerpt

Carpenter syndrome, a rare autosomal recessive disorder characterized by a combination of craniosynostosis, polysyndactyly, obesity, and other congenital malformations, is caused by mutations in RAB23, encoding a member of the Rab-family of small GTPases. In 15 out of 16 families previously reported, the disease was caused by homozygosity for truncating mutations, and currently only a single missense mutation has...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21412941
DOI: 10.1002/humu.21457
PMCID: PMC3429868

Genes

RAB23

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.PMID 21412941Read ↗

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Carpenter syndrome: a review for the craniofacial surgeon.Semantic proximity Read ↗

<i>RAB23</i> loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndromeSemantic proximity Read ↗

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