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American Journal of Human Genetics|March 3, 1999
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 geneP L Tavormina, G A Bellus, M K Webster, et al.American Journal of Human Genetics|March 1, 1997
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndromeM Muenke, K W Gripp, D M McDonald-McGinn, et al.Pageof 2