{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T07:01:57Z","timestamp":1790233317432,"version":"4.1.0"},"reference-count":26,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2017,2,1]],"date-time":"2017-02-01T00:00:00Z","timestamp":1485907200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.fr","clinicalkey.com.au","oooojournal.net","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology"],"published-print":{"date-parts":[[2017,2]]},"DOI":"10.1016\/j.oooo.2016.09.226","type":"journal-article","created":{"date-parts":[[2016,10,16]],"date-time":"2016-10-16T11:42:35Z","timestamp":1476618155000},"page":"229-234.e2","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":20,"title":["Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes"],"prefix":"10.1016","volume":"123","author":[{"given":"Sabina Pena B.","family":"P\u00eago","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo D.","family":"Coletta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Dumitriu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Iancu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saleh","family":"Albanyan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Kleta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Auricchio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis Ant\u00f4nio","family":"Santos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Breno","family":"Rocha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herc\u00edlio","family":"Martelli-J\u00fanior","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.oooo.2016.09.226_bib1","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1111\/j.1834-7819.1972.tb02747.x","article-title":"Generalized enamel hypoplasia and renal dysfunction","volume":"17","author":"MacGibbon","year":"1972","journal-title":"Aust Dent J"},{"key":"10.1016\/j.oooo.2016.09.226_bib2","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1002\/ajmg.1320200205","article-title":"Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism","volume":"20","author":"Lubinsky","year":"1985","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.oooo.2016.09.226_bib3","doi-asserted-by":"crossref","first-page":"3193","DOI":"10.1093\/ndt\/13.12.3193","article-title":"Amelogenesis imperfecta, nephrocalcinosis, and hypocalciuria syndrome in two siblings from a large family with consanguineous parents","volume":"13","author":"Dellow","year":"1998","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.oooo.2016.09.226_bib4","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1111\/j.1600-0714.2007.00615.x","article-title":"Amelogenesis imperfecta with renal disease: A report of two cases","volume":"36","author":"Elizabeth","year":"2007","journal-title":"J\u00a0Oral Pathol Med"},{"key":"10.1016\/j.oooo.2016.09.226_bib5","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1159\/000322828","article-title":"Amelogenesis imperfecta and nephrocalcinosis syndrome: A case report and review of the literature","volume":"118","author":"Martelli-Junior","year":"2011","journal-title":"Nephron Physiol"},{"key":"10.1016\/j.oooo.2016.09.226_bib6","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/1472-6831-15-14","article-title":"Further evidence for causal FAM20 A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: A case report","volume":"15","author":"Jouad","year":"2015","journal-title":"BMC Oral Health"},{"key":"10.1016\/j.oooo.2016.09.226_bib7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000349989","article-title":"Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20 A mutations","volume":"122","author":"Jaureguiberry","year":"2012","journal-title":"Nephron Physiol"},{"key":"10.1016\/j.oooo.2016.09.226_bib8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1371\/journal.pgen.1003302","article-title":"FAM20 A mutations can cause enamel-renal syndrome (ERS)","volume":"9","author":"Wang","year":"2013","journal-title":"PLoS Genet"},{"key":"10.1016\/j.oooo.2016.09.226_bib9","doi-asserted-by":"crossref","first-page":"2124","DOI":"10.1002\/ajmg.a.36579","article-title":"Enamel-renal-gingival syndrome, hypodontia, and a novel FAM20 A mutation","volume":"164A","author":"Kantaputra","year":"2014","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.oooo.2016.09.226_bib10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.a.36187","article-title":"Enamel-renal-gingival syndrome and FAM20 A mutations","volume":"164A","author":"Kantaputra","year":"2014","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.oooo.2016.09.226_bib11","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1177\/0022034513512653","article-title":"FAM20 A mutations associated with enamel renal syndrome","volume":"93","author":"Wang","year":"2014","journal-title":"J\u00a0Dent Res"},{"key":"10.1016\/j.oooo.2016.09.226_bib12","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1750-1172-9-84","article-title":"Pathognomonic oral profile of enamel renal syndrome (ERS) caused by recessive FAM20 A mutations","volume":"9","author":"De la Dure-Molla","year":"2014","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.oooo.2016.09.226_bib13","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1902\/jop.2008.070520","article-title":"Case reports of a new syndrome associating gingival fibromatosis and dental abnormalities in a consanguineous family","volume":"79","author":"Martelli-Junior","year":"2008","journal-title":"J\u00a0Periodontol"},{"key":"10.1016\/j.oooo.2016.09.226_bib14","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1016\/j.ajhg.2011.04.005","article-title":"Whole-exome sequencing identifies FAM20 A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome","volume":"88","author":"O'Sullivan","year":"2011","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.oooo.2016.09.226_bib15","doi-asserted-by":"crossref","first-page":"210","DOI":"10.3109\/03014460.2010.513774","article-title":"The search of a genetic basis for noise-induced hearing loss (NIHL)","volume":"38","author":"Abreu-Silva","year":"2011","journal-title":"Ann Hum Biol"},{"key":"10.1016\/j.oooo.2016.09.226_bib16","doi-asserted-by":"crossref","first-page":"1527","DOI":"10.1016\/B978-0-444-59565-2.00023-X","article-title":"Hearing loss and deafness in the pediatric population: Causes, diagnosis, and rehabilitation","volume":"113","author":"Deltenre","year":"2013","journal-title":"Handb Clin Neurol"},{"key":"10.1016\/j.oooo.2016.09.226_bib17","doi-asserted-by":"crossref","first-page":"746","DOI":"10.3109\/14992027.2013.817689","article-title":"Etiologic and diagnostic evaluation: Algorithm for severe to profound sensorineural hearing loss in Brazil","volume":"52","author":"Ramos","year":"2013","journal-title":"Int J Audiol"},{"key":"10.1016\/j.oooo.2016.09.226_bib18","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1086\/497996","article-title":"GJB2 mutations and degree of hearing loss: A multicenter study","volume":"77","author":"Snoeckx","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.oooo.2016.09.226_bib19","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1055\/s-0034-1373783","article-title":"Screening of connexin 26 in nonsyndromic hearing loss","volume":"19","author":"Moreira","year":"2015","journal-title":"Int Arch Otorhinolaryngol"},{"key":"10.1016\/j.oooo.2016.09.226_bib20","doi-asserted-by":"crossref","first-page":"2394","DOI":"10.1002\/ajmg.a.37159","article-title":"Report of a case of Raine syndrome and literature review","volume":"167A","author":"Seidahmed","year":"2015","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.oooo.2016.09.226_bib21","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1111\/j.1399-0004.2010.01516.x","article-title":"Osteosclerotic bone dysplasia in siblings with a Fam20 C mutation","volume":"80","author":"Fradin","year":"2011","journal-title":"Clin Genet"},{"key":"10.1016\/j.oooo.2016.09.226_bib22","doi-asserted-by":"crossref","first-page":"202","DOI":"10.3389\/fncel.2015.00202","article-title":"Cellular and deafness mechanisms underlying connexin mutation-induced hearing loss \u2013 a common hereditary deafness","volume":"9","author":"Wingard","year":"2015","journal-title":"Front Cell Neurosci"},{"key":"10.1016\/j.oooo.2016.09.226_bib23","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1177\/0300985812453177","article-title":"Amelogenesis imperfecta and other biomineralization defects in Fam20 a and Fam20 c null mice","volume":"49","author":"Vogel","year":"2012","journal-title":"Vet Pathol"},{"key":"10.1016\/j.oooo.2016.09.226_bib24","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/1471-2164-6-11","article-title":"FAM20: An evolutionarily conserved family of secreted proteins expressed in hematopoietic cells","volume":"6","author":"Nalbant","year":"2005","journal-title":"BMC Genomics"},{"key":"10.1016\/j.oooo.2016.09.226_bib25","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1902\/jop.2006.050379","article-title":"Hereditary gingival fibromatosis: A systematic review","volume":"77","author":"Coletta","year":"2006","journal-title":"J\u00a0Periodontol"},{"key":"10.1016\/j.oooo.2016.09.226_bib26","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.yjmcc.2016.03.004","article-title":"Simulation of early calcific aortic valve disease in a 3 D platform: A role for myofibroblast differentiation","volume":"94","author":"Hjortnaes","year":"2016","journal-title":"J\u00a0Mol Cell Cardiol"}],"container-title":["Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2212440316306149?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2212440316306149?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,7]],"date-time":"2018-09-07T15:57:19Z","timestamp":1536335839000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2212440316306149"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2]]},"references-count":26,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,2]]}},"alternative-id":["S2212440316306149"],"URL":"https:\/\/doi.org\/10.1016\/j.oooo.2016.09.226","relation":{},"ISSN":["2212-4403"],"issn-type":[{"value":"2212-4403","type":"print"}],"subject":[],"published":{"date-parts":[[2017,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes","name":"articletitle","label":"Article Title"},{"value":"Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.oooo.2016.09.226","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}