Article
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.
American journal of human genetics - 1 Jun 2007
Jenkins Dagan, Seelow Dominik, Jehee Fernanda S, Perlyn Chad A, Alonso Luis G, Bueno Daniela F, Donnai Dian, Josifova Dragana, Josifiova Dragana, Mathijssen Irene M J, Morton Jenny E V, Orstavik Karen Helene, Sweeney Elizabeth, Wall Steven A, Marsh Jeffrey L, Nurnberg Peter, Passos-Bueno Maria Rita, Wilkie Andrew O M
Abstract excerpt
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, identifi...
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