{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T09:20:30Z","timestamp":1770888030724,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2010,8,23]],"date-time":"2010-08-23T00:00:00Z","timestamp":1282521600000},"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":[[2010,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on the occurrence of congenital diaphragmatic hernia in a family with craniofrontonasal syndrome found to have a previously unreported mutation in <jats:italic>EFNB1<\/jats:italic>. The female proband presented with hypertelorism, telecanthus, bifid nasal tip, widow's peak, frontal bossing, and a widened metopic suture. Her father was noted to have hypertelorism, telecanthus, widow's peak, and a history of pectus carinatum. He was found to have a previously unreported mutation in exon 5 of <jats:italic>EFNB1<\/jats:italic> predicted to cause premature protein truncation. The parents of the proband previously had a female fetus with congenital diaphragmatic hernia. The occurrence of congenital diaphragmatic hernia, phenotypic differences between males and females, and utility of molecular testing in craniofrontonasal syndrome are demonstrated. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33596","type":"journal-article","created":{"date-parts":[[2010,8,29]],"date-time":"2010-08-29T03:54:17Z","timestamp":1283054057000},"page":"2574-2577","source":"Crossref","is-referenced-by-count":21,"title":["A novel <i>EFNB1<\/i> mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia"],"prefix":"10.1002","volume":"152A","author":[{"given":"Jacob","family":"Hogue","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suma","family":"Shankar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hazel","family":"Perry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reena","family":"Patel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin","family":"Vargervik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Slavotinek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,8,23]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200204000-00019"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.2.133"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10176"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2004.09.006"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0402819101"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/504440"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201633"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32388"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.07.017"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/421532"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20193"}],"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.33596","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33596","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T05:55:05Z","timestamp":1697003705000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33596"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8,23]]},"references-count":11,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2010,10]]}},"alternative-id":["10.1002\/ajmg.a.33596"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33596","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,8,23]]}}}