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

Abstract:

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 been identified in a compound heterozygote. Here, we describe a further 8 indepe...

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Publication status:
Published

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Publisher copy:
10.1002/humu.21457

Authors


Jenkins, D More by this author
De Catte, L More by this author
Elcioglu, N More by this author
Gabbett, MT More by this author
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Journal:
Human mutation
Volume:
32
Issue:
4
Pages:
E2069-E2078
Publication date:
2011-04-05
DOI:
EISSN:
1098-1004
ISSN:
1059-7794
URN:
uuid:c0e09f63-13ab-4874-9a46-4eae4a2c08fa
Source identifiers:
132417
Local pid:
pubs:132417

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