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Autor:
Cheryl A. Hill, Charles P. Lerner, Ran Xiao, Jen M. Leszl, Juanliang Cai, David L. Huso, Fan Yang, Kai Yu, Jennifer H. Elisseeff, David M. Ornitz, Joan T. Richtsmeier, Yingli Wang, Baktiar O. Karim, Anthony J. Iacovelli, Ethylin Wang Jabs
Publikováno v:
Development. 132:3537-3548
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