{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,3,26]],"date-time":"2025-03-26T10:13:09Z","timestamp":1742983989319,"version":"3.40.3"},"publisher-location":"Cham","reference-count":15,"publisher":"Springer International Publishing","isbn-type":[{"type":"print","value":"9783030787868"},{"type":"electronic","value":"9783030787875"}],"license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021]]},"DOI":"10.1007\/978-3-030-78787-5_38","type":"book-chapter","created":{"date-parts":[[2022,1,12]],"date-time":"2022-01-12T17:02:58Z","timestamp":1642006978000},"page":"319-323","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Phenotype and Genotype Study in a Case of Frontometaphyseal Dysplasia 1"],"prefix":"10.1007","author":[{"given":"Christos","family":"Yapijakis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonis","family":"Vylliotis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonia","family":"Angelopoulou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary","family":"Adamopoulou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George P.","family":"Chrousos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Costas","family":"Voumvourakis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,1,12]]},"reference":[{"key":"38_CR1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0007830","volume":"4","author":"M Baldassarre","year":"2009","unstructured":"Baldassarre M, Razinia Z, Burande CF, Lamsoul I, Lutz PG, Calderwood DA (2009) Filamins regulate cell spreading and initiation of cell migration. PLoS One 4:e7830","journal-title":"PLoS One"},{"issue":"6","key":"38_CR2","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1002\/ajmg.a.37044","volume":"167","author":"H Basart","year":"2015","unstructured":"Basart H, van de Kar A, Ad\u00e8s L, Cho TJ, Carter E, Maas SM, Wilson LC, van der Horst CM, Wade EM, Robertson SP, Hennekam RC (2015) Frontometaphyseal dysplasia and keloid formation without FLNA mutations. Am J Med Genet A 167(6):1215\u20131222","journal-title":"Am J Med Genet A"},{"key":"38_CR3","doi-asserted-by":"publisher","first-page":"47541","DOI":"10.1074\/jbc.M207681200","volume":"277","author":"M D\u2019Addario","year":"2002","unstructured":"D\u2019Addario M, Arora PD, Ellen RP, McCulloch CA (2002) Interaction of p38 and Sp1 in a mechanical force-induced, \u03b21 integrin-mediated transcriptional circuit that regulates the actin-binding protein filamin-A. J Biol Chem 277:47541\u201347550","journal-title":"J Biol Chem"},{"key":"38_CR4","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1097\/00004728-199703000-00009","volume":"21","author":"T Ehrenstein","year":"1997","unstructured":"Ehrenstein T, Maurer J, Liokumowitsch M, Mack M, Felix R, Bier J (1997) CT and MR findings in frontometaphyseal dysplasia. J Comput Assist Tomogr 21:218\u2013220","journal-title":"J Comput Assist Tomogr"},{"key":"38_CR5","doi-asserted-by":"publisher","first-page":"1034","DOI":"10.1038\/ncb1104-1034","volume":"6","author":"Y Feng","year":"2004","unstructured":"Feng Y, Walsh CA (2004) The many faces of filamin: a versatile molecular scaffold for cell motility and signalling. Nat Cell Biol 6:1034\u20131038","journal-title":"Nat Cell Biol"},{"key":"38_CR6","first-page":"2","volume":"1","author":"F Gimelli","year":"1987","unstructured":"Gimelli F, Superti-Furga A (1987) Frontometaphyseal dysplasia and the oto-palato-digital syndrome. Dysmorphol Clin Genet 1:2\u20135","journal-title":"Dysmorphol Clin Genet"},{"key":"38_CR7","doi-asserted-by":"publisher","first-page":"1689","DOI":"10.1074\/jbc.273.3.1689","volume":"273","author":"M Glogauer","year":"1998","unstructured":"Glogauer M, Arora P, Chou D, Janmey PA, Downey GP, McCulloch CA (1998) The role of actin-binding protein 280 in integrin-dependent mechanoprotection. J Biol Chem 273:1689\u20131698","journal-title":"J Biol Chem"},{"key":"38_CR8","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1001\/archpedi.1969.02100040489014","volume":"118","author":"RJ Gorlin","year":"1969","unstructured":"Gorlin RJ, Cohen MM Jr (1969) Frontometaphyseal dysplasia: a new syndrome. Am J Dis Child 118:487\u2013494","journal-title":"Am J Dis Child"},{"key":"38_CR9","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1002\/ajmg.1320050111","volume":"5","author":"RJ Gorlin","year":"1980","unstructured":"Gorlin RJ, Winter RB (1980) Frontometaphyseal dysplasia: evidence for X-linked inheritance. Am J Med Genet 5:81\u201384","journal-title":"Am J Med Genet"},{"key":"38_CR10","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1002\/ajmg.a.10831","volume":"116A","author":"E Morava","year":"2003","unstructured":"Morava E et al (2003) Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. Am J Med Genet 116A:272\u2013277","journal-title":"Am J Med Genet"},{"key":"38_CR11","doi-asserted-by":"publisher","first-page":"341","DOI":"10.1002\/(SICI)1096-8628(19970822)71:3<341::AID-AJMG16>3.0.CO;2-K","volume":"71","author":"S Robertson","year":"1997","unstructured":"Robertson S, Gunn T, Allen B, Chapman C, Becroft D (1997) Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in four-generation kindred. Am J Med Genet 71:341\u2013347","journal-title":"Am J Med Genet"},{"key":"38_CR12","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1038\/ng1119","volume":"33","author":"SP Robertson","year":"2003","unstructured":"Robertson SP, Twigg SR, Sutherland-Smith AJ et al (2003) Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet 33:487\u2013491","journal-title":"Nat Genet"},{"key":"38_CR13","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1038\/35052082","volume":"2","author":"TP Stossel","year":"2001","unstructured":"Stossel TP, Condeelis J, Cooley L, Hartwig JH, Noegel A, Schleicher M, Shapiro SS (2001) Filamins as integrators of cell mechanics and signalling. Nat Rev Mol Cell Biol 2:138\u2013145","journal-title":"Nat Rev Mol Cell Biol"},{"key":"38_CR14","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1002\/(SICI)1096-8628(20000228)90:5<407::AID-AJMG11>3.0.CO;2-D","volume":"90","author":"A Verloes","year":"2000","unstructured":"Verloes A, Lesenfants S, Barr M (2000) Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. Am J Med Genet 90:407\u2013422","journal-title":"Am J Med Genet"},{"key":"38_CR15","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1016\/j.ajhg.2016.05.024","volume":"99","author":"EM Wade","year":"2016","unstructured":"Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Ades LC, Bertola D, Bohring A, Carter E, Cho TJ et al (2016) Mutations in MAP 3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia. Am J Hum Genet 99:392\u2013406","journal-title":"Am J Hum Genet"}],"container-title":["Advances in Experimental Medicine and Biology","GeNeDis 2020"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/978-3-030-78787-5_38","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,8]],"date-time":"2022-05-08T03:45:57Z","timestamp":1651981557000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/978-3-030-78787-5_38"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"ISBN":["9783030787868","9783030787875"],"references-count":15,"URL":"https:\/\/doi.org\/10.1007\/978-3-030-78787-5_38","relation":{},"ISSN":["0065-2598","2214-8019"],"issn-type":[{"type":"print","value":"0065-2598"},{"type":"electronic","value":"2214-8019"}],"subject":[],"published":{"date-parts":[[2021]]},"assertion":[{"value":"12 January 2022","order":1,"name":"first_online","label":"First Online","group":{"name":"ChapterHistory","label":"Chapter History"}}]}}