{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T10:38:10Z","timestamp":1777891090316,"version":"3.51.4"},"reference-count":17,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Clin Med Insights Pediatr"],"published-print":{"date-parts":[[2012,1]]},"abstract":"<jats:p>We describe a neonatal patient with biliary ductopenia featuring duplication of exon 6 of the JAG1 gene. Facial alterations were observed, consisting of a prominent forehead, sunken eyes, upward slanting palpebral fissures, hypertelorism, flat nasal root and prominent chin. From birth, these were accompanied by the development of haematuria and renal failure and by renal Doppler findings indicative of peripheral renal artery stenosis. JAG1 gene mutations on chromosome 20 have been associated with various anomalies, including biliary cholestasis, vertebral abnormalities, eye disorders, heart defects and facial dysmorphia. This syndrome, first described by Alagille, is an infrequent congenital disorder caused by a dominant autosomal inheritance with variable expressivity. Anatomopathological effects include the destruction and disappearance of hepatic bile ducts (ductopenia). The duplication of exon 6 of JAG1 has not previously been described as an alteration related to the Alagille syndrome with peripheral renal artery stenosis.<\/jats:p>","DOI":"10.4137\/cmped.s9621","type":"journal-article","created":{"date-parts":[[2012,7,26]],"date-time":"2012-07-26T23:13:01Z","timestamp":1343344381000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Hypertension and Biliary Ductopenia in a Patient with Duplication of Exon 6 of the\n                    <i>JAG1<\/i>\n                    Gene"],"prefix":"10.4137","volume":"6","author":[{"given":"J.","family":"Uberos","sequence":"first","affiliation":[{"name":"Servicio de Pediatr\u00eda. Hospital Cl\u00ednico San Cecilio. Avda Dr. Ol\u00f3riz 16, 18012 Granada, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Moreno","sequence":"additional","affiliation":[{"name":"Servicio de Pediatr\u00eda. Hospital Cl\u00ednico San Cecilio. Avda Dr. Ol\u00f3riz 16, 18012 Granada, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Mu\u00f1oz-Hoyos","sequence":"additional","affiliation":[{"name":"Servicio de Pediatr\u00eda. Hospital Cl\u00ednico San Cecilio. Avda Dr. Ol\u00f3riz 16, 18012 Granada, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2012,7,26]]},"reference":[{"key":"bibr1-CMPed.S9621","doi-asserted-by":"publisher","DOI":"10.1002\/hep.510290331"},{"key":"bibr2-CMPed.S9621","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.005793"},{"key":"bibr3-CMPed.S9621","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr575"},{"key":"bibr4-CMPed.S9621","doi-asserted-by":"publisher","DOI":"10.1097\/HJH.0b013e3283531e1f"},{"key":"bibr5-CMPed.S9621","doi-asserted-by":"publisher","DOI":"10.1038\/369064a0"},{"key":"bibr6-CMPed.S9621","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-243"},{"key":"bibr7-CMPed.S9621","first-page":"312","volume":"18","author":"Harendza S.","year":"2005","journal-title":"J Nephrol."},{"key":"bibr8-CMPed.S9621","author":"Guegan K.","year":"2011","journal-title":"Clin Genet."},{"key":"bibr9-CMPed.S9621","doi-asserted-by":"publisher","DOI":"10.1126\/science.284.5415.770"},{"key":"bibr10-CMPed.S9621","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.4.264"},{"key":"bibr11-CMPed.S9621","doi-asserted-by":"publisher","DOI":"10.1097\/CCM.0B013E318165314B"},{"key":"bibr12-CMPed.S9621","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.12.891"},{"key":"bibr13-CMPed.S9621","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2011.10.004"},{"key":"bibr14-CMPed.S9621","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.181"},{"key":"bibr15-CMPed.S9621","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e3181ef3771"},{"key":"bibr16-CMPed.S9621","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000121361.01862.A4"},{"key":"bibr17-CMPed.S9621","author":"Kamath B.M.","year":"2011","journal-title":"Am J Med Genet A."}],"container-title":["Clinical Medicine Insights: Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.4137\/CMPed.S9621","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.4137\/CMPed.S9621","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.4137\/CMPed.S9621","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T05:53:52Z","timestamp":1777614832000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.4137\/CMPed.S9621"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1]]},"references-count":17,"alternative-id":["10.4137\/CMPed.S9621"],"URL":"https:\/\/doi.org\/10.4137\/cmped.s9621","relation":{},"ISSN":["1179-5565","1179-5565"],"issn-type":[{"value":"1179-5565","type":"print"},{"value":"1179-5565","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,1]]},"article-number":"CMPed.S9621"}}