Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes von Bellus, Gary A, Gaudenz, Karin, Zackai, Elaine H, Clarke, Lome A, Szabo, Jinny, Francomano, Clair A, Muenke, Maximilian

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Mutations of CTSK Result in Pycnodysostosis via a Reduction in Cathepsin K Protein von Ho, Nicola, Punturieri, Antonello, Wilkin, Douglas, Szabo, Jinny, Johnson, Maureen, Whaley, Justine, Davis, Joie, Clark, Alison, Weiss, Stephen, Francomano, Clair

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Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome von Wilkin, Douglas J., Szabo, Jinny K., Cameron, Rhoda, Henderson, Shirley, Bellus, Gary A., Mack, Michelle L., Kaitila, Ilkka, Loughlin, John, Munnich, Arnold, Sykes, Bryan, Bonaventure, Jacky, Francomano, Clair A.

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A Novel Skeletal Dysplasia with Developmental Delay and Acanthosis Nigricans Is Caused by a Lys650Met Mutation in the Fibroblast Growth Factor Receptor 3 Gene von Tavormina, Patricia L., Bellus, Gary A., Webster, Melanie K., Bamshad, Michael J., Fraley, Alexander E., McIntosh, Iain, Szabo, Jinny, Jiang, Wen, Jabs, Ethylin W., Wilcox, William R., Wasmuth, John J., Donoghue, Daniel J., Thompson, Leslie M., Francomano, Clair A.

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Hypochondroplasia: Molecular Analysis of the Fibroblast Growth Factor Receptor 3 Gene von Bellus, Gary A., Mcintosh, Iain, Szabo, Jinny, Aylsworth, Arthur, Kaitila, Ilkka, Francomano, Clair A.

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