A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene

Patricia L. Tavormina, Gary A. Bellus, Melanie K. Webster, Michael J. Bamshad, Alexander E. Fraley, Iain McIntosh, Jinny Szabo, Wen Jiang, Ethylin W. Jabs, William R. Wilcox, John J. Wasmuth, Daniel J. Donoghue, Leslie M. Thompson, Clair A. Francomano

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Medicine & Life Sciences