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A similar array of malformations was described previously by Czeizel and Losonci [Hum Genet 77:203\u2013204, 1987] in a single family which showed a transmission pattern suggesting autosomal dominant inheritance with variable expressivity. The presence of limb abnormalities and the location of the neural tube defects in these cases suggest that the underlying pathogenesis probably does not involve the same disturbances of midline field development which have been postulated to occur in the schisis association. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320510315","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:15:25Z","timestamp":1118510125000},"page":"247-250","source":"Crossref","is-referenced-by-count":3,"title":["Split hand\/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel\u2010Losonci syndrome?"],"prefix":"10.1002","volume":"51","author":[{"given":"Maurizio","family":"Genuardi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelina","family":"Silvestri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla","family":"Tozzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320120"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82884-7"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320100105"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00272395"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.5.367"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210115"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.4.253"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.157"},{"key":"e_1_2_1_10_1","volume-title":"Associated Acral and Renal Malformations","author":"Dieker H","year":"1969"},{"issue":"3","key":"e_1_2_1_10_2","first-page":"68","author":"National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440405"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440611"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320050310"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400406"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310413"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440617"},{"key":"e_1_2_1_17_1","volume-title":"Catalogue of Unbalanced Chromosome Aberrations in Man","author":"Schinzel A","year":"1984"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.1966.tb05134.x"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250612"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210103"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250621"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380404"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320510315","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320510315","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T09:04:04Z","timestamp":1698224644000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320510315"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,7]]},"references-count":22,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1994,7]]}},"alternative-id":["10.1002\/ajmg.1320510315"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320510315","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,7]]}}}