Obesity
Recent studies from University of Oxford add new data to obesity
Published in Obesity and Diabetes Week, August 20th, 2007
"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 five different mutations (four truncating and one missense) in RAB23, which encodes a member of the RAB guanosine triphosphatase (GTPase) family of vesicle transport proteins and acts as a negative regulator of hedgehog (HH) signaling," investigators in Oxford, the United Kingdom report.
"In 10 patients, the disease was caused by homozygosity for the same nonsense mutation,...
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