{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T09:44:17Z","timestamp":1771494257010,"version":"3.50.1"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,10,5]],"date-time":"2018-10-05T00:00:00Z","timestamp":1538697600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1U54AR068069\u20100"],"award-info":[{"award-number":["1U54AR068069\u20100"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:p>Severe forms of osteogenesis imperfecta (OI) are usually caused by mutations in genes that code for collagen Type I and frequently are associated with craniofacial abnormalities. However, the dental and craniofacial characteristics of OI caused by the p.Ser40Leu mutation in the <jats:italic>IFITM5<\/jats:italic> gene have not been reported. We investigated a 15\u2010year\u2010old girl with severe OI caused by this mutation. She had marked deformations of extremity long bones. There were no clinical or radiological signs of dentinogenesis imperfecta, but one tooth was missing and several teeth were impacted. Cone beam computed tomography revealed a generalized osteopenic appearance of the craniofacial skeleton, bilateral enlargement of mandibular bodies, and areas of cortical erosions. The cranial base and skull showed a generalized granular bone pattern with a mixture of osteosclerosis and osteolysis. Sphenoid and frontal sinuses were congenitally missing. Cephalometric analysis indicated a Class III growth pattern. In this case, the <jats:italic>IFITM5<\/jats:italic> p.Ser40Leu mutation did not affect tooth structure but was associated with deformities in craniofacial bones that resemble those in the other parts of the skeleton.<\/jats:p>","DOI":"10.1002\/ajmg.a.40383","type":"journal-article","created":{"date-parts":[[2018,10,6]],"date-time":"2018-10-06T09:32:03Z","timestamp":1538818323000},"page":"65-70","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in <i>IFITM5<\/i>"],"prefix":"10.1002","volume":"179","author":[{"given":"Didem","family":"Dagdeviren","sequence":"first","affiliation":[{"name":"Faculty of Dentistry McGill University  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faleh","family":"Tamimi","sequence":"additional","affiliation":[{"name":"Faculty of Dentistry McGill University  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brendan","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Baylor College of Medicine  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reid","family":"Sutton","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Baylor College of Medicine  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6261-0360","authenticated-orcid":false,"given":"Frank","family":"Rauch","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shriners Hospital for Children and McGill University  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Marc","family":"Retrouvey","sequence":"additional","affiliation":[{"name":"Faculty of Dentistry McGill University  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,10,5]]},"reference":[{"issue":"5","key":"e_1_2_8_2_1","first-page":"446","article-title":"A modified short version of the oral health impact profile for assessing health\u2010related quality of life in edentulous adults","volume":"15","author":"Allen F.","year":"2002","journal-title":"The International Journal of Prosthodontics"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0176466"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajodo.2003.08.026"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-016-3709-1"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37365"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejo\/cjl035"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.070418"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140414"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2173"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(15)00728-X"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2000.15.9.1650"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.2741\/e281"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36409"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.5037\/jomr.2013.4401"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2156"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/odi.12568"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.080412"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1079-2104(99)70272-6"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajodo.2012.10.016"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(84)90206-8"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.011"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-016-3723-3"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0714.1996.tb01381.x"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30523"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2016.14"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa013096"}],"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.40383","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.40383","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T11:22:09Z","timestamp":1694690529000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.40383"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,5]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,1]]}},"alternative-id":["10.1002\/ajmg.a.40383"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.40383","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,10,5]]},"assertion":[{"value":"2018-04-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-06-07","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-10-05","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}