Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.
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...
| Główni autorzy: | , , , , , , , , , |
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| Format: | Journal article |
| Język: | English |
| Wydane: |
2011
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