{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T14:50:38Z","timestamp":1787237438813,"version":"build-2736575974"},"reference-count":21,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2008,7,1]],"date-time":"2008-07-01T00:00:00Z","timestamp":1214870400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2008,7,1]],"date-time":"2008-07-01T00:00:00Z","timestamp":1214870400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2008,7]]},"DOI":"10.1016\/j.ejmg.2008.02.008","type":"journal-article","created":{"date-parts":[[2008,3,21]],"date-time":"2008-03-21T11:07:03Z","timestamp":1206097623000},"page":"351-357","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":23,"title":["P35S mutation in the NOG gene associated with Teunissen\u2013Cremers syndrome and features of multiple NOG joint-fusion syndromes"],"prefix":"10.1016","volume":"51","author":[{"given":"Nir","family":"Hirshoren","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Menachem","family":"Gross","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eyal","family":"Banin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Sosna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth","family":"Bargal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annick","family":"Raas-Rothschild","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2008.02.008_bib1","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1111\/j.1365-2273.2007.01475.x","article-title":"A review on the genetics of otosclerosis","volume":"32","author":"Moumoulidis","year":"2007","journal-title":"Clin. Otolaryngol."},{"key":"10.1016\/j.ejmg.2008.02.008_bib2","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1288\/00005537-199004000-00009","article-title":"An autosomal dominant inherited syndrome with congenital stapes ankylosis","volume":"100","author":"Teunissen","year":"1990","journal-title":"Laryngoscope"},{"key":"10.1016\/j.ejmg.2008.02.008_bib3","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1097\/00129492-200501000-00008","article-title":"Teunissen\u2013Cremers syndrome: a clinical, surgical, and genetic report","volume":"26","author":"Weekamp","year":"2005","journal-title":"Otol. Neurotol."},{"key":"10.1016\/j.ejmg.2008.02.008_bib4","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1086\/342067","article-title":"Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin","volume":"71","author":"Brown","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2008.02.008_bib5","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1002\/(SICI)1096-8628(19990219)82:5<404::AID-AJMG9>3.0.CO;2-I","article-title":"Congenital stapes ankylosis, broad thumbs, and hyperopia: report of a family and refinement of a syndrome","volume":"82","author":"Milunsky","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2008.02.008_bib6","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1097\/00019605-199707000-00001","article-title":"The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia","volume":"6","author":"Hilhorst-Hofstee","year":"1997","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ejmg.2008.02.008_bib7","doi-asserted-by":"crossref","first-page":"884","DOI":"10.2106\/00004623-198567060-00010","article-title":"Tarsal and carpal coalition and symphalangism of the Fuhrmann type. Report of a family","volume":"67","author":"Drawbert","year":"1985","journal-title":"J. Bone Joint Surg. Am."},{"key":"10.1016\/j.ejmg.2008.02.008_bib8","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1086\/519697","article-title":"A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN","volume":"81","author":"Lehmann","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2008.02.008_bib9","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1001\/archotol.1985.00800130097014","article-title":"Proximal symphalangia and stapes ankylosis","volume":"111","author":"Cremers","year":"1985","journal-title":"Arch. Otolaryngol."},{"key":"10.1016\/j.ejmg.2008.02.008_bib10","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1097\/01.mao.0000185074.58199.6b","article-title":"Stapes ankylosis in a family with a novel NOG mutation: otologic features of the facioaudiosymphalangism syndrome","volume":"26","author":"Declau","year":"2005","journal-title":"Otol. Neurotol."},{"key":"10.1016\/j.ejmg.2008.02.008_bib11","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1002\/humu.9016","article-title":"Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism","volume":"19","author":"Mangino","year":"2002","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2008.02.008_bib12","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1038\/6821","article-title":"Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis","volume":"21","author":"Gong","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2008.02.008_bib13","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1016\/S0092-8674(00)80133-6","article-title":"The Spemann organizer signal noggin binds and inactivates bone morphogenetic protein 4","volume":"86","author":"Zimmerman","year":"1996","journal-title":"Cell"},{"key":"10.1016\/j.ejmg.2008.02.008_bib14","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/S0959-437X(96)80064-5","article-title":"Bone morphogenetic proteins in development","volume":"6","author":"Hogan","year":"1996","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.ejmg.2008.02.008_bib15","doi-asserted-by":"crossref","first-page":"3969","DOI":"10.1242\/dev.122.12.3969","article-title":"Joint patterning defects caused by single and double mutations in members of the bone morphogenetic protein (BMP) family","volume":"122","author":"Storm","year":"1996","journal-title":"Development"},{"key":"10.1016\/j.ejmg.2008.02.008_bib16","doi-asserted-by":"crossref","first-page":"1455","DOI":"10.1126\/science.280.5368.1455","article-title":"Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton","volume":"280","author":"Brunet","year":"1998","journal-title":"Science"},{"key":"10.1016\/j.ejmg.2008.02.008_bib17","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1097\/00129492-200303000-00014","article-title":"Characterization of a stapes ankylosis family with a NOG mutation","volume":"24","author":"Brown","year":"2003","journal-title":"Otol. Neurotol."},{"key":"10.1016\/j.ejmg.2008.02.008_bib18","first-page":"344","article-title":"Proximal symphalangism and congenital conductive hearing loss: otologic aspects","volume":"20","author":"Ensink","year":"1999","journal-title":"Am. J. Otol."},{"key":"10.1016\/j.ejmg.2008.02.008_bib19","doi-asserted-by":"crossref","first-page":"1292","DOI":"10.1523\/JNEUROSCI.21-04-01292.2001","article-title":"Bmp4 mediates apoptotic cell death in the developing chick eye","volume":"21","author":"Trousse","year":"2001","journal-title":"J. Neurosci."},{"key":"10.1016\/j.ejmg.2008.02.008_bib20","doi-asserted-by":"crossref","first-page":"3764","DOI":"10.1101\/gad.12.23.3764","article-title":"BMP4 is essential for lens induction in the mouse embryo","volume":"12","author":"Furuta","year":"1998","journal-title":"Genes. Dev."},{"key":"10.1016\/j.ejmg.2008.02.008_fr2","author":"Online Mendelian Inheritance in Man (OMIM)"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721208000438?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721208000438?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:36:25Z","timestamp":1761708985000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721208000438"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,7]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2008,7]]}},"alternative-id":["S1769721208000438"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2008.02.008","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2008,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"P35S mutation in the NOG gene associated with Teunissen\u2013Cremers syndrome and features of multiple NOG joint-fusion syndromes","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2008.02.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2008 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}