{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T05:38:29Z","timestamp":1792301909449,"version":"4.4.0"},"reference-count":70,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2018,2,1]],"date-time":"2018-02-01T00:00:00Z","timestamp":1517443200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Appl Genetics"],"published-print":{"date-parts":[[2018,5]]},"DOI":"10.1007\/s13353-017-0423-4","type":"journal-article","created":{"date-parts":[[2018,2,1]],"date-time":"2018-02-01T16:10:14Z","timestamp":1517501414000},"page":"133-147","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":54,"title":["Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling"],"prefix":"10.1007","volume":"59","author":[{"given":"Anna","family":"Kutkowska-Ka\u017amierczak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Gos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewa","family":"Obersztyn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,2,1]]},"reference":[{"issue":"2","key":"423_CR1","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1044\/2014_AJA-13-0036","volume":"23","author":"NB Agochukwu","year":"2014","unstructured":"Agochukwu NB, Solomon BD, Muenke M (2014) Hearing loss in syndromic craniosynostoses: introduction and consideration of mechanisms. Am J Audiol 23(2):135\u2013141. https:\/\/doi.org\/10.1044\/2014_AJA-13-0036","journal-title":"Am J Audiol"},{"issue":"5","key":"423_CR2","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1111\/j.1399-0004.2007.00884.x","volume":"72","author":"L Arnaud-L\u00f3pez","year":"2007","unstructured":"Arnaud-L\u00f3pez L, Fragoso R, Mantilla-Capacho J, Barros-N\u00fa\u00f1ez P (2007) Crouzon with acanthosis nigricans. Further delineation of the syndrome. Clin Genet 72(5):405\u2013410","journal-title":"Clin Genet"},{"key":"423_CR3","unstructured":"Arts H, Knoers N (2013) Cranioectodermal dysplasia. In: Adam MP, Ardinger HH, Pagon RA et al (eds) GeneReviews\u00ae [Internet]. University of Washington, Seattle; 1993\u20132017. Available online at: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK154653"},{"issue":"3","key":"423_CR4","first-page":"285","volume":"18","author":"N Bezniakow","year":"2014","unstructured":"Bezniakow N, Gos M, Obersztyn E (2014) The RASopathies as an example of RAS\/MAPK pathway disturbances\u2014clinical presentation and molecular pathogenesis of selected syndromes. Dev Period Med 18(3):285\u2013296","journal-title":"Dev Period Med"},{"issue":"8","key":"423_CR5","doi-asserted-by":"publisher","first-page":"984","DOI":"10.1002\/ajmg.a.32208","volume":"146A","author":"SL Boulet","year":"2008","unstructured":"Boulet SL, Rasmussen SA, Honein MA (2008) A population-based study of craniosynostosis in metropolitan Atlanta, 1989\u20132003. Am J Med Genet A 146A(8):984\u2013991","journal-title":"Am J Med Genet A"},{"issue":"3","key":"423_CR6","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1111\/j.1601-6343.2007.00393.x","volume":"10","author":"SA Boyadjiev","year":"2007","unstructured":"Boyadjiev SA; International Craniosynostosis Consortium (2007) Genetic analysis of non-syndromic craniosynostosis. Orthod Craniofac Res 10(3):129\u2013137","journal-title":"Orthod Craniofac Res"},{"issue":"5","key":"423_CR7","doi-asserted-by":"publisher","first-page":"1178","DOI":"10.1002\/ajmg.a.35270","volume":"158A","author":"AS Brasil","year":"2012","unstructured":"Brasil AS, Malaquias AC, Kim CA, Krieger JE, Jorge AA, Pereira AC, Bertola DR (2012) KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis. Am J Med Genet A 158A(5):1178\u20131184. https:\/\/doi.org\/10.1002\/ajmg.a.35270","journal-title":"Am J Med Genet A"},{"issue":"3","key":"423_CR8","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1016\/j.ejmg.2011.02.002","volume":"54","author":"A Busche","year":"2011","unstructured":"Busche A, Graul-Neumann LM, Zweier C, Rauch A, Klopocki E, Horn D (2011) Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature. Eur J Med Genet 54(3):256\u2013261. https:\/\/doi.org\/10.1016\/j.ejmg.2011.02.002","journal-title":"Eur J Med Genet"},{"issue":"11","key":"423_CR9","doi-asserted-by":"publisher","first-page":"2544","DOI":"10.1002\/ajmg.a.37218","volume":"167","author":"A Chaudhry","year":"2015","unstructured":"Chaudhry A, Sabatini P, Han L, Ray PN, Forrest C, Bowdin S (2015) Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement. Am J Med Genet A 167(11):2544\u20132547","journal-title":"Am J Med Genet A"},{"issue":"10","key":"423_CR10","doi-asserted-by":"publisher","first-page":"1167","DOI":"10.1089\/thy.2014.0503","volume":"25","author":"R Chawla","year":"2015","unstructured":"Chawla R, Alden TD, Bizhanova A, Kadakia R, Brickman W, Kopp PA (2015) Squamosal suture craniosynostosis due to hyperthyroidism caused by an activating thyrotropin receptor mutation (T632I). Thyroid 25(10):1167\u20131172","journal-title":"Thyroid"},{"issue":"15","key":"423_CR11","doi-asserted-by":"publisher","first-page":"1655","DOI":"10.1002\/ajmg.a.31341","volume":"140","author":"Y Chinen","year":"2006","unstructured":"Chinen Y, Kaname T, Yanagi K, Saito N, Naritomi K, Ohta T (2006) Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1). Am J Med Genet A 140(15):1655\u20131657","journal-title":"Am J Med Genet A"},{"issue":"11","key":"423_CR12","doi-asserted-by":"publisher","first-page":"2101","DOI":"10.1007\/s00381-013-2235-0","volume":"29","author":"E Cho","year":"2013","unstructured":"Cho E, Yang TH, Shin ES, Byeon JH, Kim GH, Eun BL (2013) Saethre\u2013Chotzen syndrome with an atypical phenotype: identification of TWIST microdeletion by array CGH. Childs Nerv Syst 29(11):2101\u20132104","journal-title":"Childs Nerv Syst"},{"issue":"2","key":"423_CR13","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1002\/ajmg.10400","volume":"110","author":"K Chun","year":"2002","unstructured":"Chun K, Teebi AS, Jung JH, Kennedy S, Laframboise R, Meschino WS, Nakabayashi K, Scherer SW, Ray PN, Teshima I (2002) Genetic analysis of patients with the Saethre\u2013Chotzen phenotype. Am J Med Genet A 110(2):136\u2013143","journal-title":"Am J Med Genet A"},{"issue":"4","key":"423_CR14","doi-asserted-by":"publisher","first-page":"575","DOI":"10.3171\/jns.1995.83.4.0575","volume":"83","author":"G Cinalli","year":"1995","unstructured":"Cinalli G, Renier D, Sebag G, Sainte-Rose C, Arnaud E, Pierre-Kahn A (1995) Chronic tonsillar herniation in Crouzon\u2019s and Apert\u2019s syndromes: the role of premature synostosis of the lambdoid suture. J Neurosurg 83(4):575\u2013582","journal-title":"J Neurosurg"},{"key":"423_CR15","first-page":"374","volume-title":"Craniosynostosis: diagnosis, evaluation, and management","author":"MM Cohen Jr","year":"2000","unstructured":"Cohen MM Jr (2000) Saethre\u2013Chotzen syndrome. In: Cohen MM Jr, MacLean RE (eds) Craniosynostosis: diagnosis, evaluation, and management, 2nd edn. Oxford University Press, New York pp 374\u2013376","edition":"2"},{"issue":"1","key":"423_CR16","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1111\/j.1399-0004.1992.tb03620.x","volume":"41","author":"MM Cohen Jr","year":"1992","unstructured":"Cohen MM Jr, Kreiborg S (1992) Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods. Clin Genet 41(1):12\u201315","journal-title":"Clin Genet"},{"issue":"1","key":"423_CR17","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1002\/ajmg.1320580119","volume":"58","author":"MM Cohen Jr","year":"1995","unstructured":"Cohen MM Jr, Kreiborg S (1995) Cutaneous manifestations of Apert syndrome. Am J Med Genet 58(1):94\u201396","journal-title":"Am J Med Genet"},{"issue":"5","key":"423_CR18","doi-asserted-by":"publisher","first-page":"1313","DOI":"10.1097\/01.PRS.0000111593.96440.30","volume":"113","author":"JP Connolly","year":"2004","unstructured":"Connolly JP, Gruss J, Seto ML, Whelan MF, Ellenbogen R, Weiss A, Buchman SR, Cunningham ML (2004) Progressive postnatal craniosynostosis and increased intracranial pressure. Plast Reconstr Surg 113(5):1313\u20131323","journal-title":"Plast Reconstr Surg"},{"issue":"4","key":"423_CR19","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1038\/sj.ejhg.5201325","volume":"13","author":"TJ Ravel de","year":"2005","unstructured":"de Ravel TJ, Taylor IB, Van Oostveldt AJ, Fryns JP, Wilkie AO (2005) A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. Eur J Hum Genet 13(4):503\u2013505","journal-title":"Eur J Hum Genet"},{"key":"423_CR20","doi-asserted-by":"publisher","unstructured":"Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, et al (2016) Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. Am J Hum Genet. 99(1):125\u201338. https:\/\/doi.org\/10.1016\/j.ajhg.2016.05.019","DOI":"10.1016\/j.ajhg.2016.05.019"},{"issue":"6","key":"423_CR21","doi-asserted-by":"publisher","first-page":"1532","DOI":"10.1002\/ajmg.a.37640","volume":"170","author":"MB Fernandes","year":"2016","unstructured":"Fernandes MB, Maximino LP, Perosa GB, Abramides DV, Passos-Bueno MR, Yacubian-Fernandes A (2016) Apert and Crouzon syndromes\u2014cognitive development, brain abnormalities, and molecular aspects. Am J Med Genet A 170(6):1532\u20131537. https:\/\/doi.org\/10.1002\/ajmg.a.37640","journal-title":"Am J Med Genet A"},{"issue":"12","key":"423_CR22","doi-asserted-by":"publisher","first-page":"1010","DOI":"10.1002\/bdra.23049","volume":"94","author":"SK Gill","year":"2012","unstructured":"Gill SK, Broussard C, Devine O, Green RF, Rasmussen SA, Reefhuis J; National Birth Defects Prevention Study (2012) Association between maternal age and birth defects of unknown etiology\u2014United States, 1997\u20132007. Birth Defects Res A Clin Mol Teratol 94(12):1010\u20131018. https:\/\/doi.org\/10.1002\/bdra.23049","journal-title":"Birth Defects Res A Clin Mol Teratol"},{"issue":"3","key":"423_CR23","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1086\/302831","volume":"66","author":"RL Glaser","year":"2000","unstructured":"Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AO, Jabs EW (2000) Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet 66(3):768\u2013777","journal-title":"Am J Hum Genet"},{"key":"423_CR24","doi-asserted-by":"publisher","first-page":"2067","DOI":"10.1002\/ajmg.a.33513","volume":"152A","author":"A Goriely","year":"2000","unstructured":"Goriely A, Lord H, Lim J, Johnson D, Lester T, Firth HV, Wilkie AO (2000) Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: implications for genetic testing in \u201cpaternal age-effect\u201d syndromes. Am J Med Genet A 152A:2067\u20132073","journal-title":"Am J Med Genet A"},{"key":"423_CR25","unstructured":"Gorlin R.et al. (1990) Syndromes of the head and neck. Oxford University Press. New York"},{"issue":"3","key":"423_CR26","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1007\/s40142-014-0042-x","volume":"2","author":"Y Heuz\u00e9","year":"2014","unstructured":"Heuz\u00e9 Y, Holmes G, Peter I, Richtsmeier JT, Jabs EW (2014) Closing the gap: genetic and genomic continuum from syndromic to nonsyndromic craniosynostoses. Curr Genet Med Rep 2(3):135\u2013145","journal-title":"Curr Genet Med Rep"},{"issue":"10","key":"423_CR27","doi-asserted-by":"publisher","first-page":"e284","DOI":"10.1016\/j.bjps.2013.04.030","volume":"66","author":"T Higashino","year":"2013","unstructured":"Higashino T, Hirabayashi S (2013) A secondary craniosynostosis associated with juvenile hyperthyroidism. J Plast Reconstr Aesthet Surg 66(10):e284\u2013e286","journal-title":"J Plast Reconstr Aesthet Surg"},{"issue":"2","key":"423_CR28","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1097\/00001665-200403000-00013","volume":"15","author":"MF Hoefkens","year":"2004","unstructured":"Hoefkens MF, Vermeij-Keers C, Vaandrager JM (2004) Crouzon syndrome: phenotypic signs and symptoms of the postnatally expressed subtype. J Craniofac Surg 15(2):233\u2013240; discussion 241\u20132","journal-title":"J Craniofac Surg"},{"key":"423_CR29","doi-asserted-by":"publisher","first-page":"729","DOI":"10.1086\/429417","volume":"76","author":"N Huang","year":"2005","unstructured":"Huang N, Pandey AV, Agrawal V, Reardon W, Lapunzina PD, Mowat D, Jabs EW, Van Vliet G, Sack J, Fl\u00fcck CE, Miller WL (2005) Diversity and function of mutations in P450 oxidoreductase in patients with Antley\u2013Bixler syndrome and disordered steroidogenesis. Am J Hum Genet 76:729\u2013749","journal-title":"Am J Hum Genet"},{"issue":"3","key":"423_CR30","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1016\/0092-8674(93)90379-5","volume":"75","author":"EW Jabs","year":"1993","unstructured":"Jabs EW, M\u00fcller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB et al (1993) A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 75(3):443\u2013450","journal-title":"Cell"},{"issue":"7","key":"423_CR31","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1136\/jmg.2007.057042","volume":"45","author":"FS Jehee","year":"2008","unstructured":"Jehee FS, Krepischi-Santos AC, Rocha KM, Cavalcanti DP, Kim CA, Bertola DR, Alonso LG, D\u2019Angelo CS, Mazzeu JF, Froyen G, Lugtenberg D, Vianna-Morgante AM, Rosenberg C, Passos-Bueno MR (2008) High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation. J Med Genet 45(7):447\u2013450. https:\/\/doi.org\/10.1136\/jmg.2007.057042","journal-title":"J Med Genet"},{"issue":"4","key":"423_CR32","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1038\/ejhg.2010.235","volume":"19","author":"D Johnson","year":"2011","unstructured":"Johnson D, Wilkie AO (2011) Craniosynostosis. Eur J Hum Genet 19(4):369\u2013376. https:\/\/doi.org\/10.1038\/ejhg.2010.235","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"423_CR33","doi-asserted-by":"publisher","first-page":"1282","DOI":"10.1086\/302122","volume":"63","author":"D Johnson","year":"1998","unstructured":"Johnson D, Horsley SW, Moloney DM, Oldridge M, Twigg SR, Walsh S, Barrow M, Nj\u00f8lstad PR, Kunz J, Ashworth GJ, Wall SA, Kearney L, Wilkie AO (1998) A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. Am J Hum Genet 63(5):1282\u20131293","journal-title":"Am J Hum Genet"},{"issue":"12","key":"423_CR34","doi-asserted-by":"publisher","first-page":"1360","DOI":"10.1038\/ng.2463","volume":"44","author":"CM Justice","year":"2012","unstructured":"Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuz\u00e9 Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA (2012) A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet 44(12):1360\u20131364. https:\/\/doi.org\/10.1038\/ng.2463","journal-title":"Nat Genet"},{"issue":"11","key":"423_CR35","doi-asserted-by":"publisher","first-page":"2893","DOI":"10.1002\/ajmg.a.38392","volume":"173","author":"CM Justice","year":"2017","unstructured":"Justice CM, Kim J, Kim SD, Kim K, Yagnik G, Cuellar A, Carrington B, Lu CL, Sood R, Boyadjiev SA, Wilson AF (2017) A variant associated with sagittal nonsyndromic craniosynostosis alters the regulatory function of a non-coding element. Am J Med Genet A 173(11):2893\u20132897","journal-title":"Am J Med Genet A"},{"key":"423_CR36","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1016\/j.bbacli.2016.04.006","volume":"6","author":"MA Katsianou","year":"2016","unstructured":"Katsianou MA, Adamopoulos C, Vastardis H, Basdra EK (2016) Signaling mechanisms implicated in cranial sutures pathophysiology: craniosynostosis. BBA Clin 6:165\u2013176","journal-title":"BBA Clin"},{"issue":"6","key":"423_CR37","doi-asserted-by":"publisher","first-page":"1383","DOI":"10.1002\/ajmg.a.33435","volume":"152A","author":"U Kini","year":"2010","unstructured":"Kini U, Hurst JA, Byren JC, Wall SA, Johnson D, Wilkie AO (2010) Etiological heterogeneity and clinical characteristics of metopic synostosis: evidence from a tertiary craniofacial unit. Am J Med Genet A 152A(6):1383\u20131389. https:\/\/doi.org\/10.1002\/ajmg.a.33435","journal-title":"Am J Med Genet A"},{"issue":"5","key":"423_CR38","doi-asserted-by":"publisher","first-page":"1036","DOI":"10.1002\/ajmg.a.32786","volume":"149A","author":"CP Kratz","year":"2009","unstructured":"Kratz CP, Zampino G, Kriek M, Kant SG, Leoni C, Pantaleoni F, Oudesluys-Murphy AM, Di Rocco C, Kloska SP, Tartaglia M, Zenker M (2009) Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. Am J Med Genet A 149A(5):1036\u20131040. https:\/\/doi.org\/10.1002\/ajmg.a.32786","journal-title":"Am J Med Genet A"},{"issue":"4","key":"423_CR39","doi-asserted-by":"publisher","first-page":"704","DOI":"10.1002\/ajmg.1320430411","volume":"43","author":"S Kreiborg","year":"1992","unstructured":"Kreiborg S, Barr M Jr, Cohen MM Jr (1992) Cervical spine in the Apert syndrome. Am J Med Genet 43(4):704\u2013708","journal-title":"Am J Med Genet"},{"issue":"1","key":"423_CR40","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1038\/sj.ejhg.5201507","volume":"14","author":"W Kress","year":"2006","unstructured":"Kress W, Schropp C, Lieb G, Petersen B, B\u00fcsse-Ratzka M, Kunz J, Reinhart E, Sch\u00e4fer WD, Sold J, Hoppe F, Pahnke J, Trusen A, S\u00f6rensen N, Krauss J, Collmann H (2006) Saethre\u2013Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. Eur J Hum Genet 14(1):39\u201348","journal-title":"Eur J Hum Genet"},{"key":"423_CR41","doi-asserted-by":"crossref","unstructured":"Lajeunie E, Le Merrer M, Bona\u00efti-Pellie C, Marchac D, Renier D (1995) Genetic study of nonsyndromic coronal craniosynostosis. Am J Med Genet. 55 (4):500\u20134","DOI":"10.1002\/ajmg.1320550422"},{"issue":"2","key":"423_CR42","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1002\/(SICI)1096-8628(20000313)91:2<159::AID-AJMG17>3.0.CO;2-6","volume":"91","author":"E Lajeunie","year":"2000","unstructured":"Lajeunie E, Bonaventure J, El Ghouzzi V, Catala M, Renier D (2000) Monozygotic twins with Crouzon syndrome: concordance for craniosynostosis and discordance for thumb duplication. Am J Med Genet 91(2):159\u2013160","journal-title":"Am J Med Genet"},{"issue":"1","key":"423_CR43","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1002\/bdra.20093","volume":"73","author":"P Lapunzina","year":"2005","unstructured":"Lapunzina P, Fern\u00e1ndez A, S\u00e1nchez Romero JM, Delicado A, S\u00e1enz de Pipaon M, L\u00f3pez Pajares I, Molano J (2005) A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail. Birth Defects Res A Clin Mol Teratol 73(1):61\u201364","journal-title":"Birth Defects Res A Clin Mol Teratol"},{"issue":"4","key":"423_CR44","first-page":"403","volume":"16","author":"JM Mantilla-Capacho","year":"2005","unstructured":"Mantilla-Capacho JM, Arnaud L, D\u00edaz-Rodriguez M, Barros-N\u00fa\u00f1ez P (2005) Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene. Genet Couns 16(4):403\u2013406","journal-title":"Genet Couns"},{"issue":"8","key":"423_CR45","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1136\/jmg.2004.027888","volume":"42","author":"G McGillivray","year":"2005","unstructured":"McGillivray G, Savarirayan R, Cox TC, Stojkoski C, McNeil R, Bankier A, Bateman JF, Roscioli T, Gardner RJ, Lamand\u00e9 SR (2005) Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. J Med Genet 42(8):656\u2013662","journal-title":"J Med Genet"},{"issue":"1","key":"423_CR46","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1002\/(SICI)1096-8628(19971128)73:1<61::AID-AJMG12>3.0.CO;2-P","volume":"73","author":"CA Murdoch-Kinch","year":"1997","unstructured":"Murdoch-Kinch CA, Ward RE (1997) Metacarpophalangeal analysis in Crouzon syndrome: additional evidence for phenotypic convergence with the acrocephalosyndactyly syndromes. Am J Med Genet 73(1):61\u201366","journal-title":"Am J Med Genet"},{"issue":"2","key":"423_CR47","first-page":"190","volume":"11","author":"OA Pantke","year":"1975","unstructured":"Pantke OA, Cohen MM Jr, Witkop CJ Jr, Feingold M, Schaumann B, Pantke HC, Gorlin RJ (1975) The Saethre\u2013Chotzen syndrome. Birth Defects Orig Artic Ser 11(2):190\u2013225","journal-title":"Birth Defects Orig Artic Ser"},{"key":"423_CR48","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1159\/000115035","volume":"12","author":"MR Passos-Bueno","year":"2008","unstructured":"Passos-Bueno MR, Serti Eacute AE, Jehee FS, Fanganiello R, Yeh E (2008) Genetics of craniosynostosis: genes, syndromes, mutations and genotype\u2013phenotype correlations. Front Oral Biol 12:107\u2013143. https:\/\/doi.org\/10.1159\/000115035","journal-title":"Front Oral Biol"},{"issue":"12","key":"423_CR49","doi-asserted-by":"publisher","first-page":"1337","DOI":"10.1002\/ajmg.a.31277","volume":"140","author":"F Quintero-Rivera","year":"2006","unstructured":"Quintero-Rivera F, Robson CD, Reiss RE, Levine D, Benson CB, Mulliken JB, Kimonis VE (2006) Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome. Am J Med Genet A 140(12):1337\u20131338","journal-title":"Am J Med Genet A"},{"issue":"5","key":"423_CR50","doi-asserted-by":"publisher","first-page":"1547","DOI":"10.1097\/SCS.0b013e3181ebe62f","volume":"21","author":"A Ranger","year":"2010","unstructured":"Ranger A, Chaudhary N, Matic D (2010) Craniosynostosis involving the squamous temporal sutures: a rare and possibly underreported etiology for cranial vault asymmetry. J Craniofac Surg 21(5):1547\u20131550","journal-title":"J Craniofac Surg"},{"key":"423_CR51","doi-asserted-by":"publisher","first-page":"66","DOI":"10.3171\/jns.1996.85.1.0066","volume":"85","author":"D Renier","year":"1996","unstructured":"Renier D, Arnaud E, Cinalli G, Sebag G, Zerah M, Marchac D (1996) Prognosis for mental function in Apert\u2019s syndrome. J Neurosurg 85:66\u201372","journal-title":"J Neurosurg"},{"issue":"10\u201311","key":"423_CR52","doi-asserted-by":"publisher","first-page":"645","DOI":"10.1007\/s003810000320","volume":"16","author":"D Renier","year":"2000","unstructured":"Renier D, Lajeunie E, Arnaud E, Marchac D (2000) Management of craniosynostoses. Childs Nerv Syst 16(10\u201311):645\u2013658","journal-title":"Childs Nerv Syst"},{"issue":"1","key":"423_CR53","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1002\/1096-8628(20000703)93:1<22::AID-AJMG5>3.0.CO;2-U","volume":"93","author":"T Roscioli","year":"2000","unstructured":"Roscioli T, Flanagan S, Kumar P, Masel J, Gattas M, Hyland VJ, Glass IA (2000) Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. Am J Med Genet 93(1):22\u201328","journal-title":"Am J Med Genet"},{"issue":"3","key":"423_CR54","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1038\/ng.2531","volume":"45","author":"VP Sharma","year":"2013","unstructured":"Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JA, Hoogeboom AJ, Brady AF, Jeelani NO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A; 500 Whole-Genome Sequences (WGS500) Consortium, Johnson D, Wall SA, van der Spek PJ, Mathijssen IM, Maxson RE, Twigg SR, Wilkie AO (2013) Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nat Genet 45(3):304\u2013307. https:\/\/doi.org\/10.1038\/ng.2531","journal-title":"Nat Genet"},{"issue":"35","key":"423_CR55","doi-asserted-by":"publisher","first-page":"E7341","DOI":"10.1073\/pnas.1709255114","volume":"114","author":"AT Timberlake","year":"2017","unstructured":"Timberlake AT, Furey CG, Choi J, Nelson-Williams C; Yale Center for Genome Analysis, Loring E, Galm A, Kahle KT, Steinbacher DM, Larysz D, Persing JA, Lifton RP (2017) De novo mutations in inhibitors of Wnt, BMP, and Ras\/ERK signaling pathways in non-syndromic midline craniosynostosis. Proc Natl Acad Sci U S A 114(35):E7341\u2013E7347","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"R1","key":"423_CR56","doi-asserted-by":"publisher","first-page":"R50","DOI":"10.1093\/hmg\/ddv228","volume":"24","author":"SR Twigg","year":"2015","unstructured":"Twigg SR, Wilkie AO (2015) New insights into craniofacial malformations. Hum Mol Genet 24(R1):R50\u2013R59. https:\/\/doi.org\/10.1093\/hmg\/ddv228","journal-title":"Hum Mol Genet"},{"issue":"5","key":"423_CR57","doi-asserted-by":"publisher","first-page":"698","DOI":"10.1016\/j.ajhg.2009.04.009","volume":"84","author":"SR Twigg","year":"2009","unstructured":"Twigg SR, Versnel SL, N\u00fcrnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, N\u00fcrnberg P, Mathijssen IM, Wilkie AO (2009) Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet 84(5):698\u2013705. https:\/\/doi.org\/10.1016\/j.ajhg.2009.04.009","journal-title":"Am J Hum Genet"},{"issue":"3","key":"423_CR58","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1038\/ng.2539","volume":"45","author":"SR Twigg","year":"2013","unstructured":"Twigg SR, Vorgia E, McGowan SJ, Peraki I, Fenwick AL, Sharma VP, Allegra M, Zaragkoulias A, Sadighi Akha E, Knight SJ, Lord H, Lester T, Izatt L, Lampe AK, Mohammed SN, Stewart FJ, Verloes A, Wilson LC, Healy C, Sharpe PT, Hammond P, Hughes J, Taylor S, Johnson D, Wall SA, Mavrothalassitis G, Wilkie AO (2013) Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1\/2 signaling to regulation of osteogenesis. Nat Genet 45(3):308\u2013313. https:\/\/doi.org\/10.1038\/ng.2539","journal-title":"Nat Genet"},{"issue":"6","key":"423_CR59","doi-asserted-by":"publisher","first-page":"1256","DOI":"10.1016\/j.ajhg.2016.04.007","volume":"98","author":"SRF Twigg","year":"2016","unstructured":"Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOM (2016) A recurrent mosaic mutation in SMO, encoding the hedgehog signal transducer smoothened, is the major cause of Curry\u2013Jones syndrome. Am J Hum Genet 98(6):1256\u20131265. https:\/\/doi.org\/10.1016\/j.ajhg.2016.04.007","journal-title":"Am J Hum Genet"},{"issue":"6\u20137","key":"423_CR60","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1016\/j.ejmg.2015.05.002","volume":"58","author":"K Ueda","year":"2015","unstructured":"Ueda K, Yamada J, Takemoto O, Okamoto N (2015) Eight patients with Williams syndrome and craniosynostosis. Eur J Med Genet 58(6\u20137):355\u2013357. https:\/\/doi.org\/10.1016\/j.ejmg.2015.05.002","journal-title":"Eur J Med Genet"},{"issue":"9","key":"423_CR61","doi-asserted-by":"publisher","first-page":"e1002278","DOI":"10.1371\/journal.pgen.1002278","volume":"7","author":"LE Vissers","year":"2011","unstructured":"Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T (2011) Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genet 7(9):e1002278. https:\/\/doi.org\/10.1371\/journal.pgen.1002278","journal-title":"PLoS Genet"},{"issue":"2","key":"423_CR62","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1034\/j.1399-0004.2000.570208.x","volume":"57","author":"S Gernet von","year":"2000","unstructured":"von Gernet S, Golla A, Ehrenfels Y, Schuffenhauer S, Fairley JD (2000) Genotype\u2013phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. Clin Genet 57(2):137\u2013139","journal-title":"Clin Genet"},{"issue":"1","key":"423_CR63","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1002\/(SICI)1096-8628(20000103)90:1<82::AID-AJMG15>3.0.CO;2-5","volume":"90","author":"AO Wilkie","year":"2000","unstructured":"Wilkie AO (2000) Epidemiology and genetics of craniosynostosis. Am J Med Genet 90(1):82\u201384","journal-title":"Am J Med Genet"},{"issue":"2","key":"423_CR64","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1038\/ng0295-165","volume":"9","author":"AO Wilkie","year":"1995","unstructured":"Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P et al (1995a) Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 9(2):165\u2013172","journal-title":"Nat Genet"},{"issue":"3","key":"423_CR65","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1136\/jmg.32.3.174","volume":"32","author":"AO Wilkie","year":"1995","unstructured":"Wilkie AO, Yang SP, Summers D, Poole MD, Reardon W, Winter RM (1995b) Saethre\u2013Chotzen syndrome associated with balanced translocations involving 7p21: three further families. J Med Genet 32(3):174\u2013180","journal-title":"J Med Genet"},{"key":"423_CR66","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1002\/0470846658.ch9","volume":"232","author":"AO Wilkie","year":"2001","unstructured":"Wilkie AO, Oldridge M, Tang Z, Maxson RE Jr (2001) Craniosynostosis and related limb anomalies. Novartis Found Symp 232:122\u2013133","journal-title":"Novartis Found Symp"},{"issue":"16","key":"423_CR67","doi-asserted-by":"publisher","first-page":"1941","DOI":"10.1002\/ajmg.a.31905","volume":"143A","author":"AO Wilkie","year":"2007","unstructured":"Wilkie AO, Bochukova EG, Hansen RM, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Ven\u00e2ncio M, Hurst JA, O\u2019rourke AW, Williams LJ, Seller A, Lester T (2007) Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am J Med Genet A 143A(16):1941\u20131949","journal-title":"Am J Med Genet A"},{"issue":"2","key":"423_CR68","doi-asserted-by":"publisher","first-page":"e391","DOI":"10.1542\/peds.2009-3491","volume":"126","author":"AO Wilkie","year":"2010","unstructured":"Wilkie AO, Byren JC, Hurst JA, Jayamohan J, Johnson D, Knight SJ, Lester T, Richards PG, Twigg SR, Wall SA (2010) Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. Pediatrics 126(2):e391\u2013e400. https:\/\/doi.org\/10.1542\/peds.2009-3491","journal-title":"Pediatrics"},{"issue":"6","key":"423_CR69","doi-asserted-by":"publisher","first-page":"622","DOI":"10.1097\/MOP.0000000000000542","volume":"29","author":"AOM Wilkie","year":"2017","unstructured":"Wilkie AOM, Johnson D, Wall SA (2017) Clinical genetics of craniosynostosis. Curr Opin Pediatr 29(6):622\u2013628. https:\/\/doi.org\/10.1097\/MOP.0000000000000542","journal-title":"Curr Opin Pediatr"},{"issue":"18","key":"423_CR70","doi-asserted-by":"publisher","first-page":"4012","DOI":"10.1093\/hmg\/ddw241","volume":"25","author":"W Zhang","year":"2016","unstructured":"Zhang W, Taylor SP, Nevarez L, Lachman RS, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics Consortium, Krakow D, Cohn DH (2016) IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. Hum Mol Genet 25(18):4012\u20134020. https:\/\/doi.org\/10.1093\/hmg\/ddw241","journal-title":"Hum Mol Genet"}],"updated-by":[{"DOI":"10.1007\/s13353-018-0438-5","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2018,3,16]],"date-time":"2018-03-16T00:00:00Z","timestamp":1521158400000}}],"container-title":["Journal of Applied Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s13353-017-0423-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s13353-017-0423-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s13353-017-0423-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T16:29:36Z","timestamp":1693499376000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s13353-017-0423-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2,1]]},"references-count":70,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,5]]}},"alternative-id":["423"],"URL":"https:\/\/doi.org\/10.1007\/s13353-017-0423-4","relation":{},"ISSN":["1234-1983","2190-3883"],"issn-type":[{"value":"1234-1983","type":"print"},{"value":"2190-3883","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2,1]]},"assertion":[{"value":"4 June 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 December 2017","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 December 2017","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 February 2018","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 March 2018","order":5,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":6,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"In the original article, figures 1 and 2 were inadvertently interchanged initially. The correct figures are as shown below. The original article has been corrected.","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}}]}}