{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T07:31:22Z","timestamp":1778311882883,"version":"3.51.4"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2004,4,14]],"date-time":"2004-04-14T00:00:00Z","timestamp":1081900800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2004,7]]},"DOI":"10.1038\/sj.ejhg.5201197","type":"journal-article","created":{"date-parts":[[2004,4,14]],"date-time":"2004-04-14T09:06:08Z","timestamp":1081933568000},"page":"574-578","source":"Crossref","is-referenced-by-count":7,"title":["Physical and transcript map of the autosomal dominant colobomatous microphthalmia locus on chromosome 15q12\u2013q15 and refinement to a 4.4\u2009Mb region"],"prefix":"10.1038","volume":"12","author":[{"given":"Laetitia","family":"Michon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurette","family":"Morl\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muriel","family":"Bozon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurent","family":"Duret","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Christophe","family":"Zech","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacqueline","family":"Godet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henry","family":"Plauchu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Edery","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2004,4,14]]},"reference":[{"key":"BF5201197_CR1","doi-asserted-by":"publisher","first-page":"664","DOI":"10.1136\/jmg.30.8.664","volume":"30","author":"M Warburg","year":"1993","unstructured":"Warburg M : Classification of microphthalmos and coloboma. J Med Genet 1993; 30: 664\u2013669.","journal-title":"J Med Genet"},{"key":"BF5201197_CR2","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1038\/78071","volume":"25","author":"EF Percin","year":"2000","unstructured":"Percin EF, Ploder LA, Yu JJ et al: Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet 2000; 25: 397\u2013401.","journal-title":"Nat Genet"},{"key":"BF5201197_CR3","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/ng1120","volume":"33","author":"J Fantes","year":"2003","unstructured":"Fantes J, Ragge NK, Lynch SA et al: Mutations in SOX2 cause anophthalmia. Nat Genet 2003; 33: 1\u20132.","journal-title":"Nat Genet"},{"key":"BF5201197_CR4","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1093\/hmg\/ddh025","volume":"13","author":"VA Voronina","year":"2004","unstructured":"Voronina VA, Kozhemyakina EA, O'Kernick CM et al: Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. Hum Mol Genet 2004; 13: 315\u2013322.","journal-title":"Hum Mol Genet"},{"key":"BF5201197_CR5","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1076\/opge.24.1.1.13888","volume":"24","author":"J Graw","year":"2003","unstructured":"Graw J, Loster J : Developmental genetics in ophthalmology. Ophthalmic Genet 2003; 24: 1\u201333.","journal-title":"Ophthalmic Genet"},{"key":"BF5201197_CR6","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1002\/ajmg.a.10884","volume":"116A","author":"LA Schimmenti","year":"2003","unstructured":"Schimmenti LA, de la Cruz J, Lewis RA et al: Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am J Hum Genet 2003; 116A: 215\u2013221.","journal-title":"Am J Hum Genet"},{"key":"BF5201197_CR7","doi-asserted-by":"publisher","first-page":"1113","DOI":"10.1086\/301843","volume":"62","author":"DA Bessant","year":"1998","unstructured":"Bessant DA, Khaliq S, Hameed A et al: A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32. Am J Hum Genet 1998; 62: 1113\u20131116.","journal-title":"Am J Hum Genet"},{"key":"BF5201197_CR8","doi-asserted-by":"publisher","first-page":"1411","DOI":"10.1086\/302113","volume":"63","author":"MI Othman","year":"1998","unstructured":"Othman MI, Sullivan SA, Skuta GL et al: Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11. Am J Hum Genet 1998; 63: 1411\u20131418.","journal-title":"Am J Hum Genet"},{"key":"BF5201197_CR9","doi-asserted-by":"publisher","first-page":"1592","DOI":"10.1086\/316894","volume":"67","author":"L Morl\u00e9","year":"2000","unstructured":"Morl\u00e9 L, Bozon M, Zech JC et al.: A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12\u2013q15. Am J Hum Genet 2000; 67: 1592\u20131597.","journal-title":"Am J Hum Genet"},{"key":"BF5201197_CR10","doi-asserted-by":"publisher","first-page":"114","DOI":"10.1002\/ajmg.1330","volume":"101","author":"DM Lehman","year":"2001","unstructured":"Lehman DM, Sponsel WE, Stratton RF et al: Genetic mapping of a novel X-linked recessive colobomatous microphthalmia. Am J Med Genet 2001; 101: 114\u2013119.","journal-title":"Am J Med Genet"},{"key":"BF5201197_CR11","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1159\/000015568","volume":"89","author":"LZ Topol","year":"2000","unstructured":"Topol LZ, Modi WS, Koochekpour S, Blair DG : DRM\/GREMLIN (CKTSF1B1) maps to human chromosome 15 and is highly expressed in adult and fetal brain. Cytogenet Cell Genet 2000; 89: 79\u201384.","journal-title":"Cytogenet Cell Genet"},{"key":"BF5201197_CR12","doi-asserted-by":"publisher","first-page":"2795","DOI":"10.1101\/gad.9.22.2795","volume":"9","author":"AT Dudley","year":"1995","unstructured":"Dudley AT, Lyons KM, Robertson EJ : A requirement for bone morphogenetic protein-7 during development of the mammalian kidney and eye. Genes Dev 1995; 9: 2795\u20132807.","journal-title":"Genes Dev"},{"key":"BF5201197_CR13","doi-asserted-by":"crossref","first-page":"3161","DOI":"10.1242\/dev.129.13.3161","volume":"129","author":"R Adler","year":"2002","unstructured":"Adler R, Belecky-Adams TL : The role of bone morphogenetic proteins in the differentiation of the ventral optic cup. Development 2002; 129: 3161\u20133171.","journal-title":"Development"},{"key":"BF5201197_CR14","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1006\/dbio.2002.0811","volume":"251","author":"K Aoto","year":"2002","unstructured":"Aoto K, Nishimura T, Eto K, Motoyama J : Mouse GLI3 regulates Fgf8 expression and apoptosis in the developing neural tube, face, and limb bud. Dev Biol 2002; 251: 320\u2013332.","journal-title":"Dev Biol"},{"key":"BF5201197_CR15","doi-asserted-by":"publisher","first-page":"815","DOI":"10.1083\/jcb.143.3.815","volume":"143","author":"TW White","year":"1998","unstructured":"White TW, Goodenough DA, Paul DL : Targeted ablation of connexin50 in mice results in microphthalmia and zonular pluverulent cataracts. J Cell Biol 1998; 143: 815\u2013825.","journal-title":"J Cell Biol"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201197.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201197","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201197.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:31:26Z","timestamp":1684373486000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201197"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,4,14]]},"references-count":15,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2004,7]]}},"alternative-id":["BF5201197"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201197","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,4,14]]}}}