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Article

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

American journal of human genetics - 2 Nov 2012

Twigg Stephen R F, Lloyd Deborah, Jenkins Dagan, Elçioglu Nursel E, Cooper Christopher D O, Al-Sannaa Nouriya, Annagür Ali, Gillessen-Kaesbach Gabriele, Hüning Irina, Knight Samantha J L, Goodship Judith A, Keavney Bernard D, Beales Philip L, Gileadi Opher, McGowan Simon J, Wilkie Andrew O M

Abstract excerpt

Carpenter syndrome is an autosomal-recessive multiple-congenital-malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet; many other clinical features occur, and the most frequent include obesity, umbilical hernia, cryptorchidism, and congenital heart disease. Mutations of RAB23, encoding a small GTPase that regulates vesicular transport, are present in the...

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Source

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Identifiers

PMID: 23063620
DOI: 10.1016/j.ajhg.2012.08.027
PMCID: PMC3487118

Genes

MEGF8
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.

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Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.PMID 23063620Read ↗

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