{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T19:15:16Z","timestamp":1783970116371,"version":"3.55.0"},"reference-count":6,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2009,12,11]],"date-time":"2009-12-11T00:00:00Z","timestamp":1260489600000},"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":[[2010,2]]},"DOI":"10.1007\/s12098-009-0232-9","type":"journal-article","created":{"date-parts":[[2009,12,11]],"date-time":"2009-12-11T03:49:01Z","timestamp":1260503341000},"page":"208-209","source":"Crossref","is-referenced-by-count":4,"title":["Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies"],"prefix":"10.1007","volume":"77","author":[{"given":"Chia-Hua","family":"Chiu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Thakuria","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pankaj B.","family":"Agrawal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2009,12,11]]},"reference":[{"key":"232_CR1","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1086\/500273","volume":"78","author":"S.R. Lalani","year":"2006","unstructured":"Lalani SR, Safiullah AM, Fernbach SD et al. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet 2006: 78: 303\u2013314.","journal-title":"Am J Hum Genet"},{"key":"232_CR2","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1038\/ng1407","volume":"36","author":"L.E. Vissers","year":"2004","unstructured":"Vissers LE, van Ravenswaaij CM, Admiraal R et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 2004: 36: 955\u2013957.","journal-title":"Nat Genet"},{"key":"232_CR3","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1002\/humu.20070","volume":"24","author":"B. Loeys","year":"2004","unstructured":"Loeys B, De Backer J, Van Acker P et al. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat 2004: 24: 140\u2013146.","journal-title":"Hum Mutat"},{"key":"232_CR4","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1177\/000992289803700302","volume":"37","author":"K.D. Blake","year":"1998","unstructured":"Blake KD, Davenport SL, Hall BD et al. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr Phila 1998: 37: 159\u2013173.","journal-title":"Clin Pediatr Phila"},{"key":"232_CR5","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1002\/(SICI)1096-8628(19971017)72:2<156::AID-AJMG6>3.0.CO;2-T","volume":"72","author":"S.K. Parida","year":"1997","unstructured":"Parida SK, Kriss VM, Hall BD. Hiatus\/paraesophageal hernias in neonatal Marfan syndrome. Am J Med Genet 1997: 72: 156\u2013158.","journal-title":"Am J Med Genet"},{"key":"232_CR6","doi-asserted-by":"crossref","first-page":"1663","DOI":"10.1016\/S0022-3468(03)00588-8","volume":"38","author":"A. Petersons","year":"2003","unstructured":"Petersons A, Liepina M, Spitz L. Neonatal intrathoracic stomach in Marfan\u2019s syndrome: report of two cases. J Pediatr Surg 2003: 38: 1663\u20131664.","journal-title":"J Pediatr Surg"}],"container-title":["The Indian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-009-0232-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12098-009-0232-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-009-0232-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,2]],"date-time":"2019-06-02T03:54:21Z","timestamp":1559447661000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12098-009-0232-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,12,11]]},"references-count":6,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,2]]}},"alternative-id":["232"],"URL":"https:\/\/doi.org\/10.1007\/s12098-009-0232-9","relation":{},"ISSN":["0019-5456","0973-7693"],"issn-type":[{"value":"0019-5456","type":"print"},{"value":"0973-7693","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,12,11]]}}}