{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T07:40:14Z","timestamp":1697701214315},"reference-count":24,"publisher":"Wiley","issue":"18","license":[{"start":{"date-parts":[[2008,8,11]],"date-time":"2008-08-11T00:00:00Z","timestamp":1218412800000},"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":[[2008,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Opitz G\/BBB syndrome is characterized by midline abnormalities such as hypertelorism, cleft palate, and hypospadias. This syndrome is heterogeneous with an X\u2010linked recessive form caused by mutations in the <jats:italic>MID1<\/jats:italic> gene at band Xp22.3. However, mutations in <jats:italic>MID1<\/jats:italic> have only been identified in 47% of familial cases of X\u2010linked Opitz G\/BBB syndrome, and 13% of sporadic cases. We performed a phenotype\u2013genotype analysis of a group of nine new patients with clinical characteristics commonly seen in Opitz G\/BBB syndrome, and of previously reported patients. We identified a novel mutation in exon 9 of the <jats:italic>MID1<\/jats:italic> gene, c.1941insTGAGTCATCATCC, leading to a premature termination codon at amino acid 514 in a patient with hypertelorism, apparently low\u2010set ears, a short philtrum, bilateral cleft of lip and palate and hypospadias. This mutation affects the PRY domain of the C\u2010terminus of the MID1 protein. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32368","type":"journal-article","created":{"date-parts":[[2008,8,11]],"date-time":"2008-08-11T18:13:14Z","timestamp":1218478394000},"page":"2337-2345","source":"Crossref","is-referenced-by-count":10,"title":["Clinical and molecular studies of patients with characteristics of Opitz G\/BBB syndrome shows a novel <i>MID1<\/i> mutation"],"prefix":"10.1002","volume":"146A","author":[{"given":"Elena W.Y.","family":"Hsieh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin","family":"Vargervik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne M.","family":"Slavotinek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,8,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2121-5-9"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.3.271"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.8.1387"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2006.21.5.790"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.17.2553"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10265"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9480"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/302010"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.111154698"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.10.014"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.014829"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1197-285"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/20.9.2140"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1295-459"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/bies.10256"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000198931.09330.e8"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M512755200"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2121-3-1"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.028787"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng754"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30407"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng762"}],"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.32368","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32368","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:50:37Z","timestamp":1697615437000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32368"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,8,11]]},"references-count":24,"journal-issue":{"issue":"18","published-print":{"date-parts":[[2008,9,15]]}},"alternative-id":["10.1002\/ajmg.a.32368"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32368","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,8,11]]}}}