{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T09:08:30Z","timestamp":1763456910310},"reference-count":58,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":3884,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the familial occurrence of diaphragmatic agenesis in association with other midline anomalies in a brother and sister. Opitz and Gilbert [Am J Med Genet 1982, 12:443\u2013455] introduced the concept of the midline as a developmental field, and there have been reports of pedigrees compatible with the hypothesis of an X\u2010linked gene regulating the development of the mid\u2010line. This family suggests that an autosomal gene also contributes to the morphogenesis of midline structures. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320530108","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:44:53Z","timestamp":1118511893000},"page":"33-38","source":"Crossref","is-referenced-by-count":27,"title":["Recurrence of diaphragmatic agenesis associated with multiple midline defects: Evidence for an autosomal gene regulating the midline"],"prefix":"10.1002","volume":"53","author":[{"given":"Lynne M.","family":"Bird","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert O.","family":"Newbury","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodolfo","family":"Ruiz\u2010Velasco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marilyn C.","family":"Jones","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":"10.1016\/0022-3468(66)90221-1"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291778"},{"key":"e_1_2_1_4_1","first-page":"284","volume-title":"Developmental Anatomy","author":"Arey LB","year":"1965"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(88)80380-4"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)83546-2"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/bjs.18004720102"},{"key":"e_1_2_1_8_1","first-page":"79A","article-title":"Aplasia of the diaphragm: Early prenatal diagnosis and evidence for autosomal recessive inheritance","volume":"35","author":"Bocian M","year":"1983","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110409"},{"key":"e_1_2_1_10_1","first-page":"602","article-title":"A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium and heart","volume":"107","author":"Cantrell JR","year":"1958","journal-title":"Surg Gynecol Obstet"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420118"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360122"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360314"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340319"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82884-7"},{"key":"e_1_2_1_16_1","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1542\/peds.85.4.499","article-title":"Fryns syndrome: An autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia and distal digital hypoplasia","volume":"85","author":"Cunniff C","year":"1990","journal-title":"Pediatrics"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320100105"},{"key":"e_1_2_1_18_1","series-title":"BD:OAS","first-page":"24","volume-title":"Familial agenesis of the diaphragm","author":"Daentl DL","year":"1972"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.4.253"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.12.781"},{"key":"e_1_2_1_21_1","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1542\/peds.47.3.601","article-title":"Aplasia of the diaphragm","volume":"47","author":"Feingold M","year":"1971","journal-title":"Pediatrics"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295591"},{"key":"e_1_2_1_23_1","first-page":"289","article-title":"Familial occurrence of congenital diaphragmatic defect in three families","volume":"37","author":"Gencik A","year":"1982","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290406"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80349-5"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440203"},{"key":"e_1_2_1_27_1","series-title":"BD:OAS","first-page":"140","volume-title":"A syndrome of combined congenital defects of supraumbilical abdominal wall, lower sternum, diaphragm and heart","author":"Haller JA","year":"1972"},{"key":"e_1_2_1_28_1","first-page":"735","article-title":"Various types of diaphragmatic hernia treated surgically","volume":"86","author":"Harrington SW","year":"1948","journal-title":"Surg Gynecol Obstet"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410220"},{"key":"e_1_2_1_30_1","first-page":"609","article-title":"Familiare zwerchfellogenesie","volume":"119","author":"Jensen M","year":"1971","journal-title":"Monatsschr Kinderheilk"},{"issue":"2","key":"e_1_2_1_31_1","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1542\/peds.84.2.266","article-title":"Selected midline defect associations: A population study","volume":"84","author":"Khoury MJ","year":"1989","journal-title":"Pediatrics"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440410"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00538945"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140309"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420619"},{"key":"e_1_2_1_36_1","first-page":"172","volume-title":"The Developing Human: Clinically Oriented Embryology","author":"Moore KL","year":"1982"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410436"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170210"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1980.tb04357.x"},{"key":"e_1_2_1_40_1","series-title":"BD:OAS","first-page":"3","volume-title":"Blastogenesis and the \u201cprimary field\u201d in human development","author":"Opitz JM","year":"1993"},{"key":"e_1_2_1_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120408"},{"key":"e_1_2_1_42_1","first-page":"226","article-title":"Unilateral agenesis of the diaphragm","volume":"5","author":"Passarge E","year":"1968","journal-title":"Humangenetik"},{"key":"e_1_2_1_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(84)80010-X"},{"key":"e_1_2_1_44_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcp\/26.5.429"},{"key":"e_1_2_1_45_1","first-page":"515","article-title":"Congenital posterolateral diaphragmatic hernia: a retrospective study","volume":"24","author":"Rose\u2010Spencer JA","year":"1981","journal-title":"Can J Surg"},{"key":"e_1_2_1_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320117"},{"key":"e_1_2_1_47_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1754.1992.tb02640.x"},{"key":"e_1_2_1_48_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1992.tb03257.x"},{"key":"e_1_2_1_49_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00280341"},{"key":"e_1_2_1_50_1","first-page":"316","article-title":"Ex\u2010omphalos\u2010macroglossia\u2010gigantism syndrome in Jamaican infants","volume":"119","author":"Thorburn MJ","year":"1970","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_51_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210114"},{"key":"e_1_2_1_52_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210121"},{"key":"e_1_2_1_53_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210113"},{"key":"e_1_2_1_54_1","first-page":"778","article-title":"Combined congenital defects of the anterior abdominal wall, sternum, diaphragm, pericardium, and heart: A case report and review of the syndrome","volume":"50","author":"Toyama WM","year":"1972","journal-title":"Pediatrics"},{"key":"e_1_2_1_55_1","first-page":"109","article-title":"Embryology of the diaphragm and pleural sacs","volume":"35","author":"Wells LJ","year":"1954","journal-title":"Contrib Embryol Carnegie Inst Wash"},{"key":"e_1_2_1_56_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(91)90425-Q"},{"key":"e_1_2_1_57_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00279041"},{"key":"e_1_2_1_58_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291674"},{"key":"e_1_2_1_59_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420313"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320530108","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320530108","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T12:39:07Z","timestamp":1698237547000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320530108"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,10,15]]},"references-count":58,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1994,10,15]]}},"alternative-id":["10.1002\/ajmg.1320530108"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320530108","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,10,15]]}}}