{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:45:49Z","timestamp":1790711149359,"version":"4.1.0"},"reference-count":23,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2005,1]]},"DOI":"10.1136\/jmg.2004.023416","type":"journal-article","created":{"date-parts":[[2005,1,5]],"date-time":"2005-01-05T16:50:00Z","timestamp":1104943800000},"page":"e4-e4","source":"Crossref","is-referenced-by-count":42,"title":["First occurrence of aprosencephaly\/atelencephaly and holoprosencephaly in a family with a <i>SIX3<\/i> gene mutation and phenotype\/genotype correlation in our series of <i>SIX3<\/i> mutations: \n            Figure 1"],"prefix":"10.1136","volume":"42","author":[{"given":"L","family":"Pasquier","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Dubourg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Gonzales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Lazaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"David","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Odent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Encha-Razavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2005,1,5]]},"reference":[{"key":"2025101800181928000_42.1.e4.1","unstructured":"Norman MG, McGillivray BC, Kalousek DK, Hill A, Poskitt KJ, eds. Holoprosencephaly: defects of the mediobasal prosencephalon. In: Congenital malformations of the brain: pathological, embryological, clinical, radiological and genetic aspects. New York: Oxford University Press, 1995:187\u2013221."},{"key":"2025101800181928000_42.1.e4.2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340232"},{"key":"2025101800181928000_42.1.e4.3","unstructured":"Muenke M, Beachy PA. Holoprosencephaly. In: Scriver CR, Beaudet AR, Sly W, Valle D, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001:6203\u201330."},{"key":"2025101800181928000_42.1.e4.4","doi-asserted-by":"publisher","DOI":"10.1038\/76074"},{"key":"2025101800181928000_42.1.e4.5","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.9.1683"},{"key":"2025101800181928000_42.1.e4.6","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90397-6"},{"key":"2025101800181928000_42.1.e4.7","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.4.1618"},{"key":"2025101800181928000_42.1.e4.8","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200540"},{"key":"2025101800181928000_42.1.e4.9","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-003-0764-7"},{"key":"2025101800181928000_42.1.e4.10","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20056"},{"key":"2025101800181928000_42.1.e4.11","doi-asserted-by":"publisher","DOI":"10.1177\/088307389400900416"},{"key":"2025101800181928000_42.1.e4.12","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960628)63:4<542::AID-AJMG6>3.0.CO;2-Q"},{"key":"2025101800181928000_42.1.e4.13","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420340103"},{"key":"2025101800181928000_42.1.e4.14","doi-asserted-by":"publisher","DOI":"10.1038\/nrn989"},{"key":"2025101800181928000_42.1.e4.15","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9926(199907)60:1<39::AID-TERA11>3.0.CO;2-I"},{"key":"2025101800181928000_42.1.e4.16","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1998.5611"},{"key":"2025101800181928000_42.1.e4.17","doi-asserted-by":"publisher","DOI":"10.1038\/9718"},{"key":"2025101800181928000_42.1.e4.18","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.5916"},{"key":"2025101800181928000_42.1.e4.19","doi-asserted-by":"publisher","DOI":"10.1076\/opge.20.1.7.2298"},{"key":"2025101800181928000_42.1.e4.20","doi-asserted-by":"crossref","first-page":"4045","DOI":"10.1242\/dev.121.12.4045","volume":"121","year":"1995","journal-title":"Development"},{"key":"2025101800181928000_42.1.e4.21","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1059403"},{"key":"2025101800181928000_42.1.e4.22","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30110"},{"key":"2025101800181928000_42.1.e4.23","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(02)00751-1"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2004.023416","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:18:27Z","timestamp":1760771907000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2004.023416"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,1]]},"references-count":23,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2005,1,5]]},"published-print":{"date-parts":[[2005,1]]}},"alternative-id":["10.1136\/jmg.2004.023416"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2004.023416","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,1]]}}}