{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,20]],"date-time":"2026-06-20T04:20:08Z","timestamp":1781929208808,"version":"3.54.5"},"reference-count":17,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2019,11,1]],"date-time":"2019-11-01T00:00:00Z","timestamp":1572566400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,11,1]],"date-time":"2019-11-01T00:00:00Z","timestamp":1572566400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,10,19]],"date-time":"2020-10-19T00:00:00Z","timestamp":1603065600000},"content-version":"am","delay-in-days":353,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Stomatology, Oral and Maxillofacial Surgery"],"published-print":{"date-parts":[[2019,11]]},"DOI":"10.1016\/j.jormas.2019.01.005","type":"journal-article","created":{"date-parts":[[2019,1,11]],"date-time":"2019-01-11T19:17:23Z","timestamp":1547234243000},"page":"428-431","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"title":["Gnathodiaphyseal dysplasia with a novel R597I mutation of ANO5: Mandibular reconstruction strategies"],"prefix":"10.1016","volume":"120","author":[{"given":"G.","family":"Marechal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Schouman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Mauprivez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Benassarou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Chaine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.-A.","family":"Diner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Zazurca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Soupre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Michot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Baujat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.H.","family":"Khonsari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jormas.2019.01.005_bib0005","doi-asserted-by":"crossref","first-page":"1710","DOI":"10.1359\/jbmr.2001.16.9.1710","article-title":"Gnathodiaphyseal dysplasia: a syndrome of fibro-osseous lesions of jawbones, bone fragility, and long bone bowing","volume":"16","author":"Riminucci","year":"2001","journal-title":"J Bone Miner Res"},{"key":"10.1016\/j.jormas.2019.01.005_bib0010","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/j.ijom.2009.11.008","article-title":"Recurring gnathodiaphyseal dysplasia in two Russian brothers","volume":"39","author":"Roginsky","year":"2010","journal-title":"Int J Oral Maxillofac Surg"},{"key":"10.1016\/j.jormas.2019.01.005_bib0015","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1359\/jbmr.2003.18.3.413","article-title":"Autosomal dominant gnathodiaphyseal dysplasia maps to chromosome 11p14.3-15.1","volume":"18","author":"Tsutsumi","year":"2003","journal-title":"J Bone Miner Res"},{"key":"10.1016\/j.jormas.2019.01.005_bib0020","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1086\/421527","article-title":"The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD)","volume":"74","author":"Tsutsumi","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jormas.2019.01.005_bib0025","doi-asserted-by":"crossref","first-page":"40935","DOI":"10.1038\/srep40935","article-title":"Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia","volume":"7","author":"Jin","year":"2017","journal-title":"Sci Rep"},{"key":"10.1016\/j.jormas.2019.01.005_bib0030","doi-asserted-by":"crossref","first-page":"26440","DOI":"10.1038\/srep26440","article-title":"Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies","volume":"6","author":"Andreeva","year":"2016","journal-title":"Sci Rep"},{"key":"10.1016\/j.jormas.2019.01.005_bib0035","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1002\/ajmg.a.36986","article-title":"Gnathodiaphyseal dysplasia presenting as polyostotic fibrous dysplasia","volume":"167","author":"Vengoechea","year":"2015","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jormas.2019.01.005_bib0040","doi-asserted-by":"crossref","first-page":"e123","DOI":"10.1016\/j.oooo.2016.01.014","article-title":"Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene","volume":"121","author":"Duong","year":"2016","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol"},{"key":"10.1016\/j.jormas.2019.01.005_bib0045","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1002\/hed.25516","article-title":"Novel ANO5 mutation c.1067G>T (p.C356F) identified by whole genome sequencing in a big family with atypical gnathodiaphyseal dysplasia","volume":"41","author":"Zeng","year":"2019","journal-title":"Head Neck"},{"key":"10.1016\/j.jormas.2019.01.005_bib0050","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1038\/ejhg.2012.224","article-title":"A novel missense mutation in ANO5\/TMEM16E is causative for gnathodiaphyseal dysplasia in a large Italian pedigree","volume":"21","author":"Marconi","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jormas.2019.01.005_bib0055","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1002\/jbmr.2980","article-title":"A novel ANO5 mutation causing gnathodiaphyseal dysplasia with high bone turnover osteosclerosis","volume":"32","author":"Rolvien","year":"2017","journal-title":"J Bone Miner Res"},{"key":"10.1016\/j.jormas.2019.01.005_bib0060","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.bone.2017.11.012","article-title":"Gnathodiaphyseal dysplasia: severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5)","volume":"107","author":"Otaify","year":"2016","journal-title":"Bone"},{"key":"10.1016\/j.jormas.2019.01.005_bib0065","doi-asserted-by":"crossref","first-page":"1746","DOI":"10.1359\/jbmr.1997.12.10.1746","article-title":"Long-term effects of intravenous pamidronate in fibrous dysplasia of bone","volume":"12","author":"Chapurlat","year":"1997","journal-title":"J Bone Miner Res"},{"key":"10.1016\/j.jormas.2019.01.005_bib0070","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1359\/jbmr.06s221","article-title":"Medical therapy of children with fibrous dysplasia","volume":"21","author":"Glorieux","year":"2006","journal-title":"J Bone Miner Res"},{"key":"10.1016\/j.jormas.2019.01.005_bib0075","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1007\/s002560050167","article-title":"Fragile bone syndrome associated with craniognathic fibro-osseous lesions and abnormal modeling of the tubular bones: report of two cases and review of the literature","volume":"25","author":"Nishimura","year":"1996","journal-title":"Skeletal Radiol"},{"key":"10.1016\/j.jormas.2019.01.005_bib0080","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.clinimag.2006.07.003","article-title":"Gnathodiaphyseal dysplasia","volume":"31","author":"Ahluwalia","year":"2007","journal-title":"Clin Imaging"},{"key":"10.1016\/j.jormas.2019.01.005_bib0085","doi-asserted-by":"crossref","first-page":"2441","DOI":"10.1016\/j.joms.2016.06.006","article-title":"Gnathodiaphyseal dysplasia: surgical treatment and prosthetic rehabilitation of 2 members of the same family","volume":"74","author":"Merlini","year":"2016","journal-title":"J Oral Maxillofac Surg"}],"container-title":["Journal of Stomatology, Oral and Maxillofacial Surgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2468785519300059?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2468785519300059?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T10:05:52Z","timestamp":1762855552000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2468785519300059"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11]]},"references-count":17,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,11]]}},"alternative-id":["S2468785519300059"],"URL":"https:\/\/doi.org\/10.1016\/j.jormas.2019.01.005","relation":{},"ISSN":["2468-7855"],"issn-type":[{"value":"2468-7855","type":"print"}],"subject":[],"published":{"date-parts":[[2019,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Gnathodiaphyseal dysplasia with a novel R597I mutation of ANO5: Mandibular reconstruction strategies","name":"articletitle","label":"Article Title"},{"value":"Journal of Stomatology, Oral and Maxillofacial Surgery","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jormas.2019.01.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}