Article
Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.
Development (Cambridge, England) - 1 Aug 2005
Wang Yingli, Xiao Ran, Yang Fan, Karim Baktiar O, Iacovelli Anthony J, Cai Juanliang, Lerner Charles P, Richtsmeier Joan T, Leszl Jen M, Hill Cheryl A, Yu Kai, Ornitz David M, Elisseeff Jennifer, Huso David L, Jabs Ethylin Wang
Abstract excerpt
Apert syndrome is an autosomal dominant disorder characterized by malformations of the skull, limbs and viscera. Two-thirds of affected individuals have a S252W mutation in fibroblast growth factor receptor 2 (FGFR2). To study the pathogenesis of this condition, we generated a knock-in mouse model with this mutation. The Fgfr2(+/S252W) mutant mice have abnormalities of the skeleton, as well as of other organs...
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