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2007 | 1 |
2011 | 1 |
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RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.
Am J Hum Genet. 2007 Jun;80(6):1162-70. doi: 10.1086/518047. Epub 2007 Apr 18.
Am J Hum Genet. 2007.
PMID: 17503333
Free PMC article.
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.
Jenkins D, Baynam G, De Catte L, Elcioglu N, Gabbett MT, Hudgins L, Hurst JA, Jehee FS, Oley C, Wilkie AO.
Jenkins D, et al.
Hum Mutat. 2011 Apr;32(4):E2069-78. doi: 10.1002/humu.21457. Epub 2011 Feb 8.
Hum Mutat. 2011.
PMID: 21412941
Free PMC article.
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