{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T16:21:08Z","timestamp":1786119668211,"version":"build-2736575974"},"reference-count":44,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011,6]]},"DOI":"10.1097\/mao.0b013e318211fada","type":"journal-article","created":{"date-parts":[[2011,2,26]],"date-time":"2011-02-26T11:33:50Z","timestamp":1298720030000},"page":"632-638","source":"Crossref","is-referenced-by-count":13,"title":["Proximal Symphalangism, Hyperopia, Conductive Hearing Impairment, and the NOG Gene"],"prefix":"10.1097","volume":"32","author":[{"given":"Henricus G. X. M.","family":"Thomeer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald J. C.","family":"Admiraal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lies","family":"Hoefsloot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henricus P. M.","family":"Kunst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cor W. R. J.","family":"Cremers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-18-20210212","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/0165-5876(91)90003-T","article-title":"Surgery for congenital stapes ankylosis with an associated congenital ossicular chain anomaly.","volume":"21","author":"Teunissen","year":"1991","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"R2-18-20210212","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1093\/genetics\/1.1.90","article-title":"Hereditary anchylosis of the proximal phalan-geal joints (symphalangism).","volume":"1","author":"Cushing","year":"1916","journal-title":"Genetics"},{"key":"R3-18-20210212","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1056\/NEJM196010272631706","article-title":"Symphalangism, strabismus and hearing loss in mother and daughter.","volume":"263","author":"Vesell","year":"1960","journal-title":"N Engl J Med"},{"key":"R4-18-20210212","first-page":"108","article-title":"Symphalangism: genetic and clinical aspects.","volume":"117","author":"Strasburger","year":"1965","journal-title":"Bull Johns Hopkins Hosp"},{"key":"R5-18-20210212","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1111\/j.1399-0004.1985.tb01219.x","article-title":"The facio-audio-symphalangism syndrome: report of a case and review of the literature.","volume":"28","author":"Hurvitz","year":"1985","journal-title":"Clin Genet"},{"key":"R6-18-20210212","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":"R7-18-20210212","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":"R8-18-20210212","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1002\/ajmg.a.30152","article-title":"A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses.","volume":"128A","author":"Debeer","year":"2004","journal-title":"Am J Med Genet A"},{"key":"R9-18-20210212","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1002\/ajmg.a.30645","article-title":"Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation.","volume":"134","author":"Debeer","year":"2005","journal-title":"Am J Med Genet A"},{"key":"R10-18-20210212","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":"R11-18-20210212","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1097\/00125817-200109000-00004","article-title":"Identical mutations in NOG can cause either tarsal\/carpal coalition syndrome or proximal symphalangism.","volume":"3","author":"Dixon","year":"2001","journal-title":"Genet Med"},{"key":"R12-18-20210212","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":"R13-18-20210212","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1016\/j.fertnstert.2003.08.054","article-title":"Premature ovarian failure in a female with proximal symphalangism and noggin mutation.","volume":"81","author":"Kosaki","year":"2004","journal-title":"Fertil Steril"},{"key":"R14-18-20210212","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":"R15-18-20210212","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":"R16-18-20210212","first-page":"221","article-title":"Growth and skeletal development in families with NOGGIN gene mutations.","volume":"69","author":"Oxley","year":"2008","journal-title":"Horm Res"},{"key":"R17-18-20210212","doi-asserted-by":"crossref","first-page":"1540","DOI":"10.1002\/ajmg.a.33387","article-title":"Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation.","volume":"152A","author":"Rudnik-Schoneborn","year":"2010","journal-title":"Am J Med Genet A"},{"key":"R18-18-20210212","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1034\/j.1399-0004.2001.600607.x","article-title":"Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.","volume":"60","author":"Takahashi","year":"2001","journal-title":"Clin Genet"},{"key":"R19-18-20210212","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1097\/00019605-200504000-00004","article-title":"The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene.","volume":"14","author":"van den Ende","year":"2005","journal-title":"Clin Dysmorphol"},{"key":"R20-18-20210212","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1097\/00129492-200501000-00008","article-title":"Teunissen-Cremers syndrome: a clinical, surgical, and genetic report.","volume":"26","author":"Weekamp","year":"2005","journal-title":"Otol Neurotol"},{"key":"R21-18-20210212","first-page":"299","article-title":"Stapes fixation and proximal symphalangism caused by autosomal dominant transmission (author's transl).","volume":"57","author":"Baschek","year":"1978","journal-title":"Laryngol Rhinol Otol (Stuttg)"},{"key":"R22-18-20210212","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":"R23-18-20210212","doi-asserted-by":"crossref","first-page":"1","DOI":"10.7547\/87507315-83-1-1","article-title":"Hereditary symphalangism with associated tarsal synostosis and hypophalangism.","volume":"83","author":"Castle","year":"1993","journal-title":"J Am Pediatr Med Assoc"},{"key":"R24-18-20210212","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/S0165-5876(85)80081-1","article-title":"Meatal atresia and hearing loss. Autosomal dominant and autosomal recessive inheritance.","volume":"8","author":"Cremers","year":"1985","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"R26-18-20210212","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":"R27-18-20210212","first-page":"278","article-title":"Symphalangism and tarsal coalitions: a hereditary syndrome. A report on two families.","volume":"51","author":"Geelhoed","year":"1969","journal-title":"J Bone Joint Surg Br"},{"key":"R28-18-20210212","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/BF00338132","article-title":"Symphalangism, strabism, and anomaly of the middle ear (author's transl).","volume":"22","author":"Gloede","year":"1974","journal-title":"Humangenetik"},{"key":"R29-18-20210212","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1007\/BF00440561","article-title":"Stapes fixation a proximal symphalangism.","volume":"108","author":"Gorlin","year":"1970","journal-title":"Z Kinderheilkd"},{"key":"R30-18-20210212","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1111\/j.1399-0004.1977.tb00938.x","article-title":"Congenital malformation of the feet with low body height. A new syndrome, caused by an autosomal dominant gene.","volume":"12","author":"Gregersen","year":"1977","journal-title":"Clin Genet"},{"key":"R31-18-20210212","first-page":"23","article-title":"Symphalangism and brachydactyly syndrome: report of the WL symphalangism-brachydactyly syndrome: review of literature and classification.","volume":"10","author":"Herrmann","year":"1974","journal-title":"Birth Defects Orig Artic Ser"},{"key":"R32-18-20210212","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1002\/ajmg.1320160116","article-title":"Conductive deafness, symphalangism, and facial abnormalities: the WL syndrome in a Japanese family.","volume":"16","author":"Higashi","year":"1983","journal-title":"Am J Med Genet"},{"key":"R33-18-20210212","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":"R35-18-20210212","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":"R36-18-20210212","first-page":"139","article-title":"Familial symphalangism syndrome transmitted through five generations.","volume":"2","author":"Moumoumi","year":"1991","journal-title":"Genet Couns"},{"key":"R37-18-20210212","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1007\/BF00441486","article-title":"Multiple synostosis syndrome.","volume":"134","author":"Pedersen","year":"1980","journal-title":"Eur J Pediatr"},{"key":"R38-18-20210212","first-page":"133","article-title":"An autosomal dominant facio-audio symphalangism syndrome with Klippel-Feil anomaly: a new variant of multiple synostoses.","volume":"1","author":"Pfeiffer","year":"1990","journal-title":"Genet Couns"},{"key":"R39-18-20210212","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1007\/BF00460406","article-title":"Congenital stapes ankylosis and fusion of tarsal and carpal bones as a dominant hereditary syndrome.","volume":"206","author":"Spoendlin","year":"1974","journal-title":"Arch Otorhinolaryngol"},{"key":"R40-18-20210212","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1007\/BF01876546","article-title":"A case of multiple synostoses syndrome.","volume":"25","author":"Tsuruta","year":"1980","journal-title":"Jinrui Idengaku Zasshi"},{"key":"R41-18-20210212","doi-asserted-by":"crossref","first-page":"394","DOI":"10.3109\/00016487509121342","article-title":"Congenital stapes fixation, symphalangism and syndactylia.","volume":"80","author":"Vase","year":"1975","journal-title":"Acta Otolaryngol"},{"key":"R42-18-20210212","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1136\/jmg.13.5.394","article-title":"Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis.","volume":"13","author":"Ventruto","year":"1976","journal-title":"J Med Genet"},{"key":"R43-18-20210212","first-page":"643","article-title":"Isolated stapes ankylosis as a symptom of a hereditary bony deformity syndrome (author's transl).","volume":"53","author":"von Schulthess","year":"1974","journal-title":"Laryngol Rhinol Otol (Stuttg)"},{"key":"R44-18-20210212","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":"R45-18-20210212","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1006\/dbio.2002.0779","article-title":"Extracellular regulation of BMP signaling in vertebrates: a cocktail of modulators.","volume":"250","author":"Balemans","year":"2002","journal-title":"Dev Biol"},{"key":"R46-18-20210212","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1038\/nature01245","article-title":"Structural basis of BMP signalling inhibition by the cystine knot protein Noggin.","volume":"420","author":"Groppe","year":"2002","journal-title":"Nature"}],"container-title":["Otology &amp; Neurotology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.1097\/MAO.0b013e318211fada","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T18:52:56Z","timestamp":1786042376000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00129492-201106000-00018"}},"subtitle":["2 New Mutations"],"short-title":[],"issued":{"date-parts":[[2011,6]]},"references-count":44,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2011]]}},"URL":"https:\/\/doi.org\/10.1097\/mao.0b013e318211fada","relation":{},"ISSN":["1531-7129"],"issn-type":[{"value":"1531-7129","type":"print"}],"subject":[],"published":{"date-parts":[[2011,6]]}}}