{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T10:10:14Z","timestamp":1760955014742},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2004,7,1]],"date-time":"2004-07-01T00:00:00Z","timestamp":1088640000000},"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":[[2004,7]]},"DOI":"10.1007\/bf02724118","type":"journal-article","created":{"date-parts":[[2007,10,18]],"date-time":"2007-10-18T06:24:15Z","timestamp":1192688655000},"page":"593-597","source":"Crossref","is-referenced-by-count":12,"title":["Spectrum of holoprosencephaly"],"prefix":"10.1007","volume":"71","author":[{"given":"Seema","family":"Thakur","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renu","family":"Singh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Pradhan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shubha R.","family":"Phadke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"BF02724118_CR1","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1002\/tera.1420400304","volume":"40","author":"MM Cohen","year":"1989","unstructured":"Cohen MM Jr. Perspectives on holoprosencephaly. Part I. Epidimiology, genetics and syndromology.Teratology 1989a; 40:211\u2013235.","journal-title":"Teratology"},{"key":"BF02724118_CR2","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1002\/ajmg.1320340232","volume":"34","author":"MM Cohen","year":"1989","unstructured":"Cohen MM Jr. Perspectives on holoprosencephaly. Part III. Spectra, distinctions, continuities and discontinuities.Am J Med Genet 1989b; 34:271\u2013288.","journal-title":"Am J Med Genet"},{"key":"BF02724118_CR3","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1542\/peds.34.2.256","volume":"34","author":"WE DeMyer","year":"1964","unstructured":"DeMyer WE, Zeman W, Palmer CG. The face predicts the brain: Diagnostic significance of median facial anomalies for holoprosencephaly (arrhinencephaly).Pediatrics 1964; 34:256\u2013263.","journal-title":"Pediatrics"},{"key":"BF02724118_CR4","first-page":"196","volume":"12","author":"MM Cohen","year":"1992","unstructured":"Cohen MM Jr, Sulik KK. Perspectives on holoprosencephaly, Part II.Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach and experimental studies.J Craniofacial Genet Dev Biol 1992; 12:196\u2013224.","journal-title":"J Craniofacial Genet Dev Biol"},{"key":"BF02724118_CR5","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1002\/(SICI)1096-8628(19971212)73:2<217::AID-AJMG20>3.0.CO;2-S","volume":"73","author":"CL Oslen","year":"1997","unstructured":"Oslen CL, Hughes JP, Youngblood LG, Sharpe-Stimae M. Epidimiology of holoprosencephaly and phenotypic characterstics of affected children: New York State 1984-1989.Am J Med Genet 1997; 73:217\u2013226","journal-title":"Am J Med Genet"},{"key":"BF02724118_CR6","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1002\/tera.1420160304","volume":"16","author":"E Matsunaga","year":"1977","unstructured":"Matsunaga E, Shiota K. Holoprosencephaly in human embryos: Epidimiologic study of 150 cases.Teratology 1977; 16: 261\u2013272.","journal-title":"Teratology"},{"key":"BF02724118_CR7","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1002\/(SICI)1096-8628(19961218)66:3<320::AID-AJMG16>3.0.CO;2-O","volume":"66","author":"SA Rasmussen","year":"1996","unstructured":"Rasmussen SA, Moore CA, Khoury MJ, Corder JF. Descriptive epidimiology of holoprosencephaly and arhinencephaly in metropolitan Atlanta. 1968-1992.Am J Med Genet 1996; 66:320\u2013333.","journal-title":"Am J Med Genet"},{"issue":"2","key":"BF02724118_CR8","first-page":"294","volume":"11","author":"E Roach","year":"1975","unstructured":"Roach E, De Myer W, Palmer Ket al. Holoprosencephaly: Birth data, genetic and demographic analysis of 30 families.Birth Defects 1975; 11(2): 294\u2013313.","journal-title":"Birth Defects"},{"key":"BF02724118_CR9","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1002\/(SICI)1096-8628(19960823)64:3<465::AID-AJMG4>3.0.CO;2-O","volume":"64","author":"LA Croen","year":"1996","unstructured":"Croen LA, Shaw GM, Lammer EJ. Holoprosencephaly: epidemiology and clinical characterstics of a California population.Am J Med Genet 1996; 64:465\u2013472.","journal-title":"Am J Med Genet"},{"key":"BF02724118_CR10","first-page":"431","volume-title":"Handbook of Clinical Neurology","author":"W DeMyer","year":"1977","unstructured":"DeMyer, W. Holoprosencephaly (Cyclopia-arhinencephaly). In PJ. Vinken and G. W. Bruyn, eds.Handbook of Clinical Neurology. Amsterdam, North Holland Publishing Co., 1977, ch. 18, 431\u2013478."},{"key":"BF02724118_CR11","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1016\/0030-4220(63)90321-9","volume":"16","author":"HO Sedano","year":"1963","unstructured":"Sedano HO, Gorlin RJ. The oral manifestations of cyclopia.Oral Surg 1963; 16: 823\u2013838.","journal-title":"Oral Surg"},{"key":"BF02724118_CR12","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1007\/s00439-003-0950-4","volume":"113","author":"CS Apacik","year":"2003","unstructured":"Apacik CS, Rivero M, Knepper JLet al. SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.Hum Genet 2003; 113:170\u2013177.","journal-title":"Hum Genet"},{"key":"BF02724118_CR13","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/ng1196-357","volume":"14","author":"E Roessler","year":"1996","unstructured":"Roessler E, Belloni E, Gaudenz Ket al. Mutations in humansonic hedge hog gene cause holoprosencephaly.Nat Genet 1996; 14:357\u2013360.","journal-title":"Nat Genet"},{"key":"BF02724118_CR14","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1038\/2484","volume":"20","author":"SA Brown","year":"1998","unstructured":"Brown SA, Warburton D, Brown LY. Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.Nat Genet 1998; 20:180\u2013183.","journal-title":"Nat Genet"},{"key":"BF02724118_CR15","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1002\/1098-1004(200008)16:2<99::AID-HUMU2>3.0.CO;2-0","volume":"16","author":"D Wallis","year":"2000","unstructured":"Wallis D, Muenke M. Mutations in holoprosencephaly.Hum Mutat 2000; 16:99\u2013108.","journal-title":"Hum Mutat"},{"key":"BF02724118_CR16","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1038\/76074","volume":"25","author":"KW Gripp","year":"2000","unstructured":"Gripp KW, Wotton D, Edwards MCet al. Mutations in TGIF cause holoprosencephaly and link NODAL signaling to human neural axis determination.Nat Genet 2000; 25:205\u2013208.","journal-title":"Nat Genet"},{"key":"BF02724118_CR17","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1159\/000015618","volume":"89","author":"E Roessler","year":"2000","unstructured":"Roessler E, Du Y, Ginka A, Dutra A, Neihrs C, Muenke M. The genomic structure, chromosome location, and analysis of human DKK1 head inducer gene as a candidate for holoprosencephaly.Cytogenet Cell Genet 2000; 89: 220\u2013224.","journal-title":"Cytogenet Cell Genet"},{"key":"BF02724118_CR18","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1007\/s00439-002-0695-5","volume":"110","author":"JE Ming","year":"2002","unstructured":"Ming JE, Kaupas ME, Roessler Eet al. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG are associated with holoprosencephaly.Human Genet 2002; 110:297\u2013301.","journal-title":"Human Genet"},{"key":"BF02724118_CR19","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1007\/s00439-002-0709-3","volume":"110","author":"JM Cruz De La","year":"2002","unstructured":"De La Cruz JM, Bamford RN, Burdine RDet al. A loss of function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.Human Genet 2002;110:422\u2013428","journal-title":"Human Genet"},{"key":"BF02724118_CR20","doi-asserted-by":"crossref","first-page":"2479","DOI":"10.1093\/hmg\/8.13.2479","volume":"8","author":"L Naini","year":"1999","unstructured":"Naini L, Ming JE, Steinhaus Ket al. The mutational spectrum of sonic hedge hog gene in holoprosencephaly: SHH mutation cause a significant proportion of autosomal dominant holoprosencephaly.Hum Mol Genet 1999; 8:2479\u20132488.","journal-title":"Hum Mol Genet"}],"container-title":["The Indian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF02724118.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF02724118\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF02724118","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,14]],"date-time":"2023-05-14T12:36:35Z","timestamp":1684067795000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF02724118"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,7]]},"references-count":20,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2004,7]]}},"alternative-id":["BF02724118"],"URL":"https:\/\/doi.org\/10.1007\/bf02724118","relation":{},"ISSN":["0019-5456","0973-7693"],"issn-type":[{"value":"0019-5456","type":"print"},{"value":"0973-7693","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,7]]}}}