{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,10]],"date-time":"2026-05-10T16:59:22Z","timestamp":1778432362059,"version":"3.51.4"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,8,18]],"date-time":"2003-08-18T00:00:00Z","timestamp":1061164800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital diaphragmatic hernia is a developmental abnormality due to failure of the normal formation of the diaphragm. While the majority of cases are idiopathic, chromosomal abnormalities have been implicated in approximately 15% of cases. Several recent series have suggested that 15q24\u201026 is critical in normal development of the diaphragm. We present a patient with a karyotype of 46, XX, del (15)(q26.1) born with a diaphragmatic hernia, coarctation of the aorta, and dysmorphic features. This patient represents the smallest isolated chromosomal aberration on distal 15q reported to date. The DNA regulatory proteins, myocyte\u2010specific enhancer factor 2 proteins (<jats:italic>MEF2<\/jats:italic>), play a critical role in the control of muscle differentiation and development. One member of this gene family, <jats:italic>MEF2A<\/jats:italic>, maps to 15q26. We propose that this region is a candidate locus for diaphragmatic hernia and future investigations should examine the role of <jats:italic>MEF2A<\/jats:italic> in diaphragm formation. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20464","type":"journal-article","created":{"date-parts":[[2004,3,26]],"date-time":"2004-03-26T16:16:05Z","timestamp":1080317765000},"page":"183-185","source":"Crossref","is-referenced-by-count":53,"title":["Congenital diaphragmatic hernia: Is 15q26.1\u201026.2 a candidate locus?"],"prefix":"10.1002","volume":"126A","author":[{"suffix":"Jr","given":"Joseph R.","family":"Biggio","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria D.","family":"Descartes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew J.","family":"Carroll","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. Lynn","family":"Holt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,8,18]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000117)90:2<120::AID-AJMG6>3.0.CO;2-R"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajplung.00257.2002"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(88)90165-2"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1998.tb02706.x"},{"key":"e_1_2_4_6_1","first-page":"299","volume-title":"Fetology","author":"Bianchi DW","year":"2000"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000264193"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199812)18:12<1289::AID-PD432>3.0.CO;2-Y"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.7.469"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980923)79:3<215::AID-AJMG13>3.0.CO;2-K"},{"key":"e_1_2_4_11_1","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1093\/oso\/9780195118612.003.0003","volume-title":"Syndromes of the head and neck","author":"Gorlin RJ","year":"2001"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1203\/01.PDR.0000062660.12769.E6"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.9007"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199611)16:11<1003::AID-PD995>3.0.CO;2-D"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb03348.x"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0095-5108(18)30201-X"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.5.12a.2327"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380117"},{"key":"e_1_2_4_19_1","first-page":"700","article-title":"Analysis of reciprocal translocations by chromosome painting: Applications and limitations of the technique","volume":"50","author":"Rosenberg C","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.50"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1542\/pir.20-10-e71"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1341-8076.2002.00053.x"},{"key":"e_1_2_4_23_1","first-page":"750","volume-title":"Genetic disorders and the fetus: Diagnosis, prevention, and treatment","author":"Ville YG","year":"1998"},{"key":"e_1_2_4_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1564"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20464","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20464","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T04:32:44Z","timestamp":1700195564000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20464"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,8,18]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,4,15]]}},"alternative-id":["10.1002\/ajmg.a.20464"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20464","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,8,18]]}}}