{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T09:44:50Z","timestamp":1777369490591,"version":"3.51.4"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":1631,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2011,4]]},"DOI":"10.1002\/ajmg.a.33901","type":"journal-article","created":{"date-parts":[[2011,3,15]],"date-time":"2011-03-15T20:46:06Z","timestamp":1300221966000},"page":"855-859","source":"Crossref","is-referenced-by-count":14,"title":["Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2"],"prefix":"10.1002","volume":"155","author":[{"given":"Maureen","family":"Murphy-Ryan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dusica","family":"Babovic-Vuksanovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noralane","family":"Lindor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,3,15]]},"reference":[{"key":"10.1002\/ajmg.a.33901-BIB1|cit2","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1002\/(SICI)1096-8628(19980217)75:5<497::AID-AJMG8>3.0.CO;2-K","article-title":"Congenital eye malformations: Clinical epidemiological analysis of 1,124,654 consecutive births in Spain","volume":"75","author":"Bermejo","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1002\/ajmg.a.33901-BIB2|cit3","doi-asserted-by":"crossref","first-page":"4791","DOI":"10.1093\/hmg\/ddp442","article-title":"Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders","volume":"18","author":"Clark","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1002\/ajmg.a.33901-BIB3|cit4","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1001\/archpedi.1967.02090170078006","article-title":"The oto-palato-digital syndrome: A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia","volume":"113","author":"Dudding","year":"1967","journal-title":"Am J Dis Child"},{"key":"10.1002\/ajmg.a.33901-BIB4|cit5","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1038\/ncb1104-1034","article-title":"The many faces of filamin: A versatile molecular scaffold for cell motility and signaling","volume":"6","author":"Feng","year":"2004","journal-title":"Nat Cell Biol"},{"key":"10.1002\/ajmg.a.33901-BIB5|cit6","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1002\/ajmg.1320150416","article-title":"The oto-palato-digital syndrome, proposed type II","volume":"15","author":"Fitch","year":"1983","journal-title":"Am J Med Genet"},{"key":"10.1002\/ajmg.a.33901-BIB6|cit7","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1002\/ajmg.a.30792","article-title":"A novel Filamin A D203Y mutation in a female patient with otopalatodigital type I syndrome and extremely skewed X chromosome inactivation","volume":"136A","author":"Hidalgo-Bravo","year":"2005","journal-title":"Am J Med Genet Part A"},{"key":"10.1002\/ajmg.a.33901-BIB7|cit8","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1016\/S0387-7604(99)00044-3","article-title":"Coexistence of oto-palato-digital syndrome type II and Arnold-Chiari I malformation in an infant","volume":"21","author":"Hung","year":"1999","journal-title":"Brain Dev"},{"key":"10.1002\/ajmg.a.33901-BIB8|cit9","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1111\/j.1741-4520.2007.00158.x","article-title":"Dandy-Walker syndrome and chromosomal abnormalities","volume":"47","author":"Imataka","year":"2007","journal-title":"Congen Anom"},{"key":"10.1002\/ajmg.a.33901-BIB9|cit10","doi-asserted-by":"crossref","first-page":"2035","DOI":"10.1002\/ajmg.a.31877","article-title":"Bifid tongue: A rare feature associated with Infants of Diabetic Mother Syndrome","volume":"143A","author":"James","year":"2007","journal-title":"Am J Med Genet Part A"},{"key":"10.1002\/ajmg.a.33901-BIB10|cit11","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1007\/s10038-007-0108-7","article-title":"A Japanese case of oto-palato-digital syndrome type II: An apparent lack of phenotype-genotype correlation","volume":"52","author":"Kondoh","year":"2007","journal-title":"J Hum Genet"},{"key":"10.1002\/ajmg.a.33901-BIB11|cit12","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1161\/CIRCULATIONAHA.106.622621","article-title":"Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy","volume":"115","author":"Kyndt","year":"2007","journal-title":"Circulation"},{"key":"10.1002\/ajmg.a.33901-BIB12|cit13","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1212\/WNL.58.6.916","article-title":"Familial periventricular heterotopia: Missense and distal truncating mutations of the FLN1 gene","volume":"58","author":"Moro","year":"2002","journal-title":"Neurology"},{"key":"10.1002\/ajmg.a.33901-BIB13|cit14","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1136\/jmg.35.4.342","article-title":"Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation","volume":"35","author":"Nagai","year":"1998","journal-title":"J Med Genet"},{"key":"10.1002\/ajmg.a.33901-BIB14|cit15","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1002\/(SICI)1096-8628(19971212)73:2<132::AID-AJMG6>3.0.CO;2-W","article-title":"Atypical skeletal changes in otopalatodigital syndrome type II: Phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome","volume":"73","author":"Nishimura","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1002\/ajmg.a.33901-BIB15|cit16","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.ymgme.2003.08.010","article-title":"Human malformations of the midbrain and hindbrain: Review and proposed classification scheme","volume":"80","author":"Parisi","year":"2003","journal-title":"Mol Genet Metab"},{"key":"10.1002\/ajmg.a.33901-BIB16|cit17","first-page":"1074","article-title":"Analysis and classification of cerebellar malformations","volume":"23","author":"Patel","year":"2002","journal-title":"Am J Neuroradiol"},{"key":"10.1002\/ajmg.a.33901-BIB17|cit18","doi-asserted-by":"crossref","first-page":"226","DOI":"10.3928\/0191-3913-19780701-09","article-title":"Melnick-Needles syndrome","volume":"15","author":"Perry","year":"1978","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"10.1002\/ajmg.a.33901-BIB18|cit19","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1038\/ng1119","article-title":"Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans","volume":"33","author":"Robertson","year":"2003","journal-title":"Nat Genet"},{"key":"10.1002\/ajmg.a.33901-BIB19|cit20","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1038\/sj.ejhg.5201586","article-title":"Postzygotic mutation and germline mosaicism in the otopalatodigital spectrum disorders","volume":"14","author":"Robertson","year":"2006","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/ajmg.a.33901-BIB20|cit21","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1002\/ajmg.1320410206","article-title":"Oto-palato-digital syndrome type II with X-linked cerebellar hypoplasia\/hydrocephalus","volume":"41","author":"Stratton","year":"1991","journal-title":"Am J Med Genet"},{"key":"10.1002\/ajmg.a.33901-BIB21|cit22","first-page":"450","article-title":"Generalized skeletal dysplasia with multiple anomalies: A note on Pyle's disease","volume":"88","author":"Taybi","year":"1962","journal-title":"Am J Roentgenol"},{"key":"10.1002\/ajmg.a.33901-BIB22|cit23","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1136\/jmg.2004.027672","article-title":"Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial digital syndrome type 1","volume":"43","author":"Thauvin-Robinet","year":"2006","journal-title":"J Med Genet"},{"key":"10.1002\/ajmg.a.33901-BIB23|cit24","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1177\/028418518102203B11","article-title":"Congenital malformations associated with maternal osteodysplasty","volume":"22","author":"Theander","year":"1981","journal-title":"Acta Radiol Diagn (Stockh)"},{"key":"10.1002\/ajmg.a.33901-BIB24|cit25","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1002\/(SICI)1096-8628(20000228)90:5<407::AID-AJMG11>3.0.CO;2-D","article-title":"Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia","volume":"90","author":"Verloes","year":"2000","journal-title":"Am J Med Genet"}],"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.33901","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/ajmg.a.33901\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,20]],"date-time":"2021-11-20T10:17:18Z","timestamp":1637403438000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33901"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,3,15]]},"references-count":24,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2011,4]]}},"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33901","relation":{},"ISSN":["1552-4825"],"issn-type":[{"value":"1552-4825","type":"print"}],"subject":[],"published":{"date-parts":[[2011,3,15]]}}}