{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T01:14:14Z","timestamp":1790903654395,"version":"4.1.0"},"reference-count":19,"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":3864,"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":[[2005,2,1]]},"DOI":"10.1002\/ajmg.a.30484","type":"journal-article","created":{"date-parts":[[2005,1,14]],"date-time":"2005-01-14T22:47:32Z","timestamp":1105742852000},"page":"386-390","source":"Crossref","is-referenced-by-count":15,"title":["A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype"],"prefix":"10.1002","volume":"132A","author":[{"given":"Margarita","family":"Stefanova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Meinecke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Gal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanno","family":"Bolz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"10.1002\/ajmg.a.30484-BIB1","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1136\/jmg.17.1.53","article-title":"Frontometaphyseal dysplasia: Autosomal dominant or X-linked?","volume":"17","author":"Beighton","year":"1980","journal-title":"J Med Genet"},{"key":"10.1002\/ajmg.a.30484-BIB2","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1002\/ajmg.1320270117","article-title":"Melnick-Needles syndrome in males: A lethal multiple congenital anomalies syndrome","volume":"27","author":"Donnenfeld","year":"1987","journal-title":"Am J Med Genet"},{"key":"10.1002\/ajmg.a.30484-BIB3","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1001\/archpedi.1967.02090170078006","article-title":"The otopalatodigital 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.30484-BIB4","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1002\/ajmg.1320150416","article-title":"The otopalatodigital syndrome, proposed type II","volume":"15","author":"Fitch","year":"1983","journal-title":"Am J Med Genet"},{"key":"10.1002\/ajmg.a.30484-BIB5","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1111\/j.1399-0004.1982.tb01433.x","article-title":"Frontometaphyseal dysplasia. Further delineation of the clinical syndrome","volume":"22","author":"Fitzsimmons","year":"1982","journal-title":"Clin Genet"},{"key":"10.1002\/ajmg.a.30484-BIB6","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1016\/S0896-6273(00)80651-0","article-title":"Mutations in Filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia","volume":"21","author":"Fox","year":"1998","journal-title":"Neuron"},{"key":"10.1002\/ajmg.a.30484-BIB7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.1320570102","article-title":"Frontometaphyseal dysplasia: Neonatal radiographic diagnosis","volume":"57","author":"Glass","year":"1995","journal-title":"Am J Med Genet"},{"key":"10.1002\/ajmg.a.30484-BIB8","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1002\/ajmg.1320050111","article-title":"Frontometaphyseal dysplasia: Evidence for X-linked inheritance","volume":"5","author":"Gorlin","year":"1980","journal-title":"Am J Med Genet"},{"key":"10.1002\/ajmg.a.30484-BIB9","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1016\/0278-2391(84)90425-7","article-title":"Frontometaphyseal dysplasia: Symptoms and possible mode of inheritance","volume":"42","author":"Jend-Rossmann","year":"1984","journal-title":"J Oral Maxillofac Surg"},{"key":"10.1002\/ajmg.a.30484-BIB10","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1002\/ajmg.1320270116","article-title":"Melnick-Needles syndrome in males","volume":"27","author":"Krajewska-Walasek","year":"1987","journal-title":"Am J Med Genet"},{"key":"10.1002\/ajmg.a.30484-BIB11","doi-asserted-by":"crossref","first-page":"39","DOI":"10.2214\/ajr.97.1.39","article-title":"An undiagnosed bone dysplasia. A 2 family study of 4 generations and 3 generations","volume":"97","author":"Melnick","year":"1966","journal-title":"Am J Roentgenol Radium Ther Nucl Med"},{"key":"10.1002\/ajmg.a.30484-BIB12","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.30484-BIB13","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1002\/(SICI)1096-8628(19970822)71:3<341::AID-AJMG16>3.0.CO;2-K","article-title":"Are Melnick-Needles syndrome and otopalatodigital syndrome type II allelic? Observations in a four-generation kindred","volume":"71","author":"Robertson","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1002\/ajmg.a.30484-BIB14","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.30484-BIB15","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1038\/35052082","article-title":"Filamins as integrators of cell mechanics and signalling","volume":"2","author":"Stossel","year":"2001","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1002\/ajmg.a.30484-BIB16","first-page":"2","article-title":"Frontometaphyseal dysplasia and the otopalatodigital syndrome","author":"Superti-Furga","year":"1987","journal-title":"Dysmorph Clin Genet"},{"key":"10.1002\/ajmg.a.30484-BIB17","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/S0167-4889(01)00072-6","article-title":"Structural and functional aspects of Filamins","volume":"1538","author":"van der Flier","year":"2001","journal-title":"Biochim Biophys Acta"},{"key":"10.1002\/ajmg.a.30484-BIB18","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"},{"key":"10.1002\/ajmg.a.30484-BIB19","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1086\/383094","article-title":"A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts","volume":"74","author":"Zenker","year":"2004","journal-title":"Am J Hum 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.30484","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/ajmg.a.30484","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T19:36:14Z","timestamp":1625081774000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30484"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,2,1]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,2,1]]}},"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30484","relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,2,1]]}}}