{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T10:25:55Z","timestamp":1761128755397},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2009,2,1]],"date-time":"2009-02-01T00:00:00Z","timestamp":1233446400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Indian J Pediatr"],"published-print":{"date-parts":[[2009,2]]},"DOI":"10.1007\/s12098-009-0044-y","type":"journal-article","created":{"date-parts":[[2009,3,27]],"date-time":"2009-03-27T06:13:06Z","timestamp":1238134386000},"page":"147-149","source":"Crossref","is-referenced-by-count":10,"title":["Mutation analysis in Indian children with achondroplasia \u2014 utility of molecular diagnosis"],"prefix":"10.1007","volume":"76","author":[{"given":"S.J.","family":"Patil","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Banerjee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.R.","family":"Phadke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Mittal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2009,3,28]]},"reference":[{"key":"44_CR1","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1093\/hmg\/3.5.787","volume":"3","author":"C.A. Francomano","year":"1994","unstructured":"Francomano CA, Ortiz de Luna RI, Hefferon TW. Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p. Hum Molec Genet 1994; 3: 787\u2013792.","journal-title":"Hum Molec Genet"},{"key":"44_CR2","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1038\/ng0394-318","volume":"6","author":"M. Merrer Le","year":"1994","unstructured":"Le Merrer M, Rousseau F, Legeai-Mallet Laurence, Landias JC, Pelet A, Bonaventure J et al. A gene for achondroplasiahypochondroplasia maps to chromosome 4p. Nature Genet 1994; 6: 318.","journal-title":"Nature Genet"},{"key":"44_CR3","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/0092-8674(94)90302-6","volume":"78","author":"R. Shiang","year":"1994","unstructured":"Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M et al. Mutation in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994; 78: 335\u2013342.","journal-title":"Cell"},{"key":"44_CR4","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1542\/peds.95.3.443","volume":"95","author":"American Academy of Pediatrics Committee on Genetics","year":"1995","unstructured":"Health supervision for children with achondroplasia. American Academy of Pediatrics Committee on Genetics. Pediatrics 1995; 95: 443\u2013445.","journal-title":"Pediatrics"},{"key":"44_CR5","first-page":"368","volume":"56","author":"A.G. Bellu","year":"1995","unstructured":"Bellu AG, Hefferon WT, Ortiz de Luna RI, Hecht TJ, Horton WA, Machado M et al. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet 1995; 56: 368\u2013373.","journal-title":"Am J Hum Genet"},{"key":"44_CR6","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1002\/ajmg.10092","volume":"104","author":"G. Camera","year":"2001","unstructured":"Camera G, Baldi M, Strisciuglio P, Concolino D, Masteroiacovo P, Baffico M. Occurrence of Thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutation in to patients with achondroplasia phenotype. Am J Med Genet 2001; 104: 277\u2013281.","journal-title":"Am J Med Genet"},{"key":"44_CR7","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1007\/BF00210413","volume":"96","author":"S. Ikegawa","year":"1995","unstructured":"Ikegawa S, Fukushima Y, Isomura M, Takada F, Nakamura Y. Mutations of fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients. Hum Genet 1995; 96: 309\u2013311","journal-title":"Hum Genet"},{"key":"44_CR8","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1002\/ajmg.10780","volume":"112","author":"M.M. Cohen Jr","year":"2002","unstructured":"Cohen MMJr. Some chondrodysplasias with short limbs: Molecular perspectives. Am J Med Genet 2002; 112: 304\u2013313.","journal-title":"Am J Med Genet"},{"key":"44_CR9","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1002\/(SICI)1096-8628(20000131)90:3<250::AID-AJMG13>3.0.CO;2-3","volume":"90","author":"G. Mettler","year":"2000","unstructured":"Mettler G, Fraser CF. Recurrence risk for sibs of children with \u201cSporadic\u201d achondroplasia. Am J Med Genet 2000; 90: 250\u2013251.","journal-title":"Am J Med Genet"},{"key":"44_CR10","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1002\/(SICI)1097-0223(199606)16:6<525::AID-PD909>3.0.CO;2-N","volume":"16","author":"P. Modaff","year":"1996","unstructured":"Modaff P, Horton K, Pauli RM. Error in the prenatal diagnosis of children with achondroplasia. Prenat Diagn 1996; 16: 525\u2013530.","journal-title":"Prenat Diagn"},{"key":"44_CR11","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1002\/pd.437","volume":"22","author":"H.C. Gooding","year":"2002","unstructured":"Gooding HC, Boehm K, Thompson RE, Hadley D, Francomano CA, Biesecker BB. Issues surrounding prenatal genetic testing for achondroplasia. Prenat Diagn 2002; 22: 933\u2013940","journal-title":"Prenat Diagn"}],"container-title":["The Indian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-009-0044-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12098-009-0044-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-009-0044-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,24]],"date-time":"2023-05-24T16:58:54Z","timestamp":1684947534000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12098-009-0044-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2009,2]]}},"alternative-id":["44"],"URL":"https:\/\/doi.org\/10.1007\/s12098-009-0044-y","relation":{},"ISSN":["0019-5456","0973-7693"],"issn-type":[{"value":"0019-5456","type":"print"},{"value":"0973-7693","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,2]]}}}