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

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

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...

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Main Authors: Jenkins, D, Seelow, D, Jehee, F, Perlyn, C, Alonso, L, Bueno, D, Donnai, D, Josifova, D, Josifiova, D, Mathijssen, I, Morton, J, Orstavik, K, Sweeney, E, Wall, SA, Marsh, J, Nurnberg, P, Passos-Bueno, MR, Wilkie, A
Format: Journal article
Language:English
Published: 2007

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