{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T17:27:56Z","timestamp":1788456476133,"version":"build-2803163510"},"reference-count":14,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2017,5,23]],"date-time":"2017-05-23T00:00:00Z","timestamp":1495497600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010105","name":"Savvaerksejer Jeppe Juhl og Hustru Ovita Juhls Mindelegat","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010105","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006483","name":"AbbVie","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006483","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001254","name":"Ipsen Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001254","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004336","name":"Novartis","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004336","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:title>Key Clinical Message<\/jats:title>\n                  <jats:p>We report an otherwise healthy 32\u2010year\u2010old man with portal hypertension, variceal bleeding, and congenital hepatic fibrosis with ductal plate malformation. Genetic screening identified two TMEM67 mutations. Biallelic TMEM67 mutations are known to cause Joubert\/Meckel syndrome or nephronopthisis with hepatic fibrosis, but have never been found in isolated hepatic fibrosis.<\/jats:p>","DOI":"10.1002\/ccr3.981","type":"journal-article","created":{"date-parts":[[2017,5,25]],"date-time":"2017-05-25T12:03:58Z","timestamp":1495713838000},"page":"1098-1102","source":"Crossref","is-referenced-by-count":9,"title":["Isolated congenital hepatic fibrosis associated with\n                    <i>TMEM67<\/i>\n                    mutations: report of a new genotype\u2013phenotype relationship"],"prefix":"10.1002","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1125-0393","authenticated-orcid":false,"given":"Ida","family":"Vogel","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Ott","sequence":"additional","affiliation":[{"name":"Department of Hepatology and Gastroenterology V Aarhus University Hospital Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorte","family":"Lildballe","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Hamilton\u2010Dutoit","sequence":"additional","affiliation":[{"name":"Department of Pathology Aarhus University Hospital Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hendrik","family":"Vilstrup","sequence":"additional","affiliation":[{"name":"Department of Hepatology and Gastroenterology V Aarhus University Hospital Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henning","family":"Gr\u00f8nb\u00e6k","sequence":"additional","affiliation":[{"name":"Department of Hepatology and Gastroenterology V Aarhus University Hospital Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,5,23]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1124534"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.054999"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21239"},{"key":"e_1_2_8_5_1","first-page":"118","article-title":"Determination of the hepatic elimination capacity (Lm) of galactose by single injection","volume":"18","author":"Tygstrup N.","year":"1966","journal-title":"Scand. 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