{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T07:11:57Z","timestamp":1761894717863},"reference-count":37,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2008,5,9]],"date-time":"2008-05-09T00:00:00Z","timestamp":1210291200000},"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":[[2008,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism; hirsutism; internal organ anomalies, including diaphragmatic hernia, and limb defects. While causative mutations in three genes have been identified the etiology of a significant number of cases remains unknown. We report on a child with an 8p23.1 deletion with features of CdLS and congenital diaphragmatic hernia. We review cases with cytogenetic anomalies involving 8p23.1, discuss a potential relationship between 8p23.1 deletions and CdLS and suggest a novel candidate gene for CdLS\u2014Tankyrase 1. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32095","type":"journal-article","created":{"date-parts":[[2008,5,9]],"date-time":"2008-05-09T20:16:30Z","timestamp":1210364190000},"page":"1565-1570","source":"Crossref","is-referenced-by-count":25,"title":["Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter ? A further locus for Cornelia de Lange syndrome"],"prefix":"10.1002","volume":"146A","author":[{"given":"Gareth","family":"Baynam","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jack","family":"Goldblatt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian","family":"Walpole","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,5,9]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1431"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000264193"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10024-003-2133-7"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470716"},{"key":"e_1_2_4_6_1","first-page":"713","article-title":"Sur un type nouveau de degeneration (Typus am\u2010stelodamensis)","volume":"36","author":"de Lange C","year":"1933","journal-title":"Arch Med Enf"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/511888"},{"key":"e_1_2_4_8_1","first-page":"228","article-title":"Terminal deletion in chromosome region 8p23.1\u20108pter in a child with features of velo\u2010cardio\u2010facial syndrome","volume":"38","author":"Devriendt K","year":"1995","journal-title":"Ann Genet"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/302330"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1094754"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282178"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(1998100)18:10<1055::AID-PD405>3.0.CO;2-I"},{"key":"e_1_2_4_13_1","first-page":"474","article-title":"Posterolateral diaphragmatic hernia and Brachmann\u2010de\u2010Lange syndrome","volume":"44","author":"Fryns JP","year":"1987","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_4_14_1","first-page":"171","article-title":"Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter\u2010\u2010\u2010\u20108p23.1:)","volume":"32","author":"Fryns JP","year":"1989","journal-title":"Ann Genet"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/424698"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.1995.14.4.325"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320119"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.6.407"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470703"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/341283"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470717"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1364"},{"key":"e_1_2_4_23_1","first-page":"236","article-title":"Gastrointestinal abnormalities in the Cornelia de Lange syndrome","volume":"48","author":"Lachman R","year":"1981","journal-title":"Mt Sinai J Med"},{"key":"e_1_2_4_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1468"},{"key":"e_1_2_4_25_1","first-page":"75","article-title":"Where to look for the genes related to diaphragmatic hernia?","volume":"14","author":"Lurie IW","year":"2003","journal-title":"Genet Couns"},{"key":"e_1_2_4_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.281"},{"key":"e_1_2_4_27_1","first-page":"293","article-title":"Brachmann\u2010de\u2010Lange syndrome in our population: Clinical and epidemiological characteristics","volume":"48","author":"Martinez\u2010Frias ML","year":"1998","journal-title":"An Esp Pediatr"},{"key":"e_1_2_4_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000320)91:3<180::AID-AJMG4>3.0.CO;2-R"},{"key":"e_1_2_4_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1779"},{"key":"e_1_2_4_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470718"},{"key":"e_1_2_4_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb04189.x"},{"key":"e_1_2_4_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990319)83:3<201::AID-AJMG11>3.0.CO;2-V"},{"key":"e_1_2_4_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00221946"},{"key":"e_1_2_4_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30778"},{"key":"e_1_2_4_35_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.028787"},{"key":"e_1_2_4_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1363"},{"key":"e_1_2_4_37_1","doi-asserted-by":"publisher","DOI":"10.1086\/422855"},{"key":"e_1_2_4_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960301)62:1<77::AID-AJMG16>3.0.CO;2-S"}],"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.32095","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32095","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T08:31:46Z","timestamp":1697617906000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32095"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,5,9]]},"references-count":37,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2008,6,15]]}},"alternative-id":["10.1002\/ajmg.a.32095"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32095","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,5,9]]}}}