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Lys650Met            substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene            causes thanatophoric dysplasia Type I. Mutations in brief no. 199.            Online. Hum Mutat          1998;12: 362\u20133."},{"key":"8","unstructured":"8. Adachi,              M. Case of a            Japanese female presenting severe achondroplasia with developmental delay and acanthosis            nigricans (SADDAN) syndrome with a K650M mutation in the fibroblast growth factor            receptor 3 gene. No To Hattatsu          2008;40: 478\u201382(in            Japanese)."},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Bellus,              GA, Spector,                EB,              Speiser, PW,                Weaver, CA,                Garber, AT,                Bryke, CR,              et al. Distinct missense mutations of the            FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal            dysplasia phenotype. Am J Hum Genet          2000;67: 1411\u201321.","DOI":"10.1086\/316892"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Mohammadi,                M,                Schlessinger,              J, Hubbard,                SR. Structure            of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory            mechanism. Cell          1996;86: 577\u201387.","DOI":"10.1016\/S0092-8674(00)80131-2"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Ushioda,              M, Sawai,                H, Numabe,                H,                Nishimura,              G, Shibahara,                H.            Development of individuals with thanatophoric dysplasia surviving beyond            infancy. 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Growth hormone treatment in 35 prepubertal children with achondroplasia:            a five-year dose-response trial. 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