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RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.

Abstract:

Carpenter syndrome is a pleiotropic disorder with autosomal recessive inheritance, the cardinal features of which include craniosynostosis, polysyndactyly, obesity, and cardiac defects. Using homozygosity mapping, we found linkage to chromosome 6p12.1-q12 and, in 15 independent families, identified five different mutations (four truncating and one missense) in RAB23, which encodes a member of the RAB guanosine triphosphatase (GTPase) family of vesicle transport proteins and acts as a negative...

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Publication status:
Published

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Publisher copy:
10.1086/518047

Authors


Jenkins, D More by this author
Perlyn, CA More by this author
Alonso, LG More by this author
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Journal:
American journal of human genetics
Volume:
80
Issue:
6
Pages:
1162-1170
Publication date:
2007-06-05
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:26ba825f-edf9-4b85-9999-3295b5f6cbc7
Source identifiers:
119774
Local pid:
pubs:119774

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