{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T18:04:04Z","timestamp":1787162644064,"version":"build-2736575974"},"reference-count":17,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2008,6,13]],"date-time":"2008-06-13T00:00:00Z","timestamp":1213315200000},"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":[[2008,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Johanson\u2013Blizzard syndrome (JBS) is a rare autosomal recessive condition characterized by pathognomonic facies and a constellation of other features most notably exocrine pancreatic insufficiency, oligodontia, growth retardation, hearing loss, mental retardation, scalp defects, hypothyroidism and imperforate anus. We report on an infant with classical JBS who also has unusually severe neonatal cholestatic liver disease that progressed to liver fibrosis and portal hypertension. Sequencing of\n                    <jats:italic>UBR1<\/jats:italic>\n                    revealed a previously unreported homozygous missense mutation in a consensus splice acceptor site (IVS12\u20101G\u2009&gt;\u2009A). This report is the first to document severe liver involvement in JBS and raises the possibility that this could be a rare but genuine association. \u00a9 2008 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.32401","type":"journal-article","created":{"date-parts":[[2008,6,13]],"date-time":"2008-06-13T22:21:00Z","timestamp":1213395660000},"page":"1875-1879","source":"Crossref","is-referenced-by-count":19,"title":["Johanson\u2013Blizzard syndrome: Report of a novel mutation and severe liver involvement"],"prefix":"10.1002","volume":"146A","author":[{"given":"Mohammed S.","family":"Al\u2010Dosari","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saleh","family":"Al\u2010Muhsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayman","family":"Al\u2010Jazaeri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Mayerle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Zenker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fowzan S.","family":"Alkuraya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,6,13]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10371"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320030203"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350421"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330212"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.2350\/06-05-0085.1"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.1.45"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(71)80194-4"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80015-5"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.21.23.8007-8021.2001"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260120"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-198911000-00026"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(76)80806-2"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2000.13.9.1633"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2004.17.8.1141"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1981.02130270040014"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1681"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ecl.2006.02.013"}],"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.32401","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32401","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T07:53:24Z","timestamp":1699948404000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32401"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,6,13]]},"references-count":17,"journal-issue":{"issue":"14","published-print":{"date-parts":[[2008,7,15]]}},"alternative-id":["10.1002\/ajmg.a.32401"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32401","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,6,13]]}}}