{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:26:32Z","timestamp":1791206792032,"version":"4.1.0"},"reference-count":8,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2014,8,15]],"date-time":"2014-08-15T00:00:00Z","timestamp":1408060800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Skeletal Radiol"],"published-print":{"date-parts":[[2015,3]]},"DOI":"10.1007\/s00256-014-1983-6","type":"journal-article","created":{"date-parts":[[2014,8,14]],"date-time":"2014-08-14T01:58:34Z","timestamp":1407981514000},"page":"441-445","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met"],"prefix":"10.1007","volume":"44","author":[{"given":"Shannon G.","family":"Farmakis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marwan","family":"Shinawi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Miller-Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alireza","family":"Radmanesh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas E.","family":"Herman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,8,15]]},"reference":[{"key":"1983_CR1","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1002\/humu.21636","volume":"33","author":"S Foldynova-Trantirkova","year":"2012","unstructured":"Foldynova-Trantirkova S, Wilcox WR, Krejci P. Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. Hum Mutat. 2012;33:29\u201341.","journal-title":"Hum Mutat"},{"key":"1983_CR2","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1002\/(SICI)1096-8628(19990702)85:1<53::AID-AJMG10>3.0.CO;2-F","volume":"85","author":"GA Bellus","year":"1999","unstructured":"Bellus GA, Bamshad MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, et al. Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. Am J Med Genet. 1999;85:53\u201365.","journal-title":"Am J Med Genet"},{"key":"1983_CR3","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.1038\/sj.ejhg.5201700","volume":"14","author":"S Heuertz","year":"2006","unstructured":"Heuertz S, Le Merrer M, Zabel B, Wright M, Legeai-Mallet L, Cormier-Daire V, et al. Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. Eur J Hum Genet. 2006;14:1240\u20137.","journal-title":"Eur J Hum Genet"},{"key":"1983_CR4","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1002\/ajmg.a.32085","volume":"146A","author":"A Zankl","year":"2008","unstructured":"Zankl A, Elakis G, Susman RD, Inglis G, Gardener G, Buckley MF, et al. Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation. Am J Genet A. 2008;146A:212\u20138.","journal-title":"Am J Genet A"},{"key":"1983_CR5","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1086\/302275","volume":"64","author":"PL Tavormina","year":"1999","unstructured":"Tavormina PL, Bellus GA, Webster MK, Barmshad MJ, Fraley AE, McIntosh I, et al. A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. Am J Hum Genet. 1999;64:722\u201331.","journal-title":"Am J Hum Genet"},{"key":"1983_CR6","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1086\/316892","volume":"67","author":"GA Bellus","year":"2000","unstructured":"Bellus GA, Spector EB, Speiser PW, Weaver CA, Garber AT, Bryker 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.","journal-title":"Am J Hum Genet"},{"key":"1983_CR7","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1002\/(SICI)1096-8628(19970627)70:4<427::AID-AJMG18>3.0.CO;2-J","volume":"70","author":"KM Baker","year":"1997","unstructured":"Baker KM, Olson DS, Harding CO, Pauli RM. Long-term survival in typical thanatophoric dysplasia type 1. Am J Med Genet. 1997;70:427\u201336.","journal-title":"Am J Med Genet"},{"key":"1983_CR8","doi-asserted-by":"crossref","first-page":"48","DOI":"10.2214\/AJR.08.1524","volume":"192","author":"E Miller","year":"2009","unstructured":"Miller E, Blaser S, Shannon P, Widjaja E. Brain and bone abnormalities of thanatophoric dwarfism. AJR. 2009;192:48\u201351.","journal-title":"AJR"}],"container-title":["Skeletal Radiology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00256-014-1983-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00256-014-1983-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00256-014-1983-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,24]],"date-time":"2019-05-24T15:49:57Z","timestamp":1558712997000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00256-014-1983-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,8,15]]},"references-count":8,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,3]]}},"alternative-id":["1983"],"URL":"https:\/\/doi.org\/10.1007\/s00256-014-1983-6","relation":{},"ISSN":["0364-2348","1432-2161"],"issn-type":[{"value":"0364-2348","type":"print"},{"value":"1432-2161","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,8,15]]}}}