{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T14:53:26Z","timestamp":1787496806366,"version":"build-2736575974"},"reference-count":58,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2012,7,11]],"date-time":"2012-07-11T00:00:00Z","timestamp":1341964800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2013,2]]},"DOI":"10.1038\/ejhg.2012.145","type":"journal-article","created":{"date-parts":[[2012,7,11]],"date-time":"2012-07-11T06:35:19Z","timestamp":1341988519000},"page":"200-204","source":"Crossref","is-referenced-by-count":25,"title":["Atrioventricular canal defect in patients with RASopathies"],"prefix":"10.1038","volume":"21","author":[{"given":"Maria Cristina","family":"Digilio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Romana Lepri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Lisa Dentici","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"Henderson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anwar","family":"Baban","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Cristina Roberti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossella","family":"Capolino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Versacci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Surace","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriano","family":"Angioni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Tartaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Marino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,7,11]]},"reference":[{"key":"BFejhg2012145_CR1","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/j.gde.2006.12.004","volume":"17","author":"S Schubbert","year":"2007","unstructured":"Schubbert S, Bollag G, Shannon K : Deregulated Ras signalling in developmental disorders: new tricks for an old dog. Curr Opin Genet Dev 2007; 17: 15\u201322.","journal-title":"Curr Opin Genet Dev"},{"key":"BFejhg2012145_CR2","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1016\/j.gde.2009.04.001","volume":"19","author":"WE Tidyman","year":"2009","unstructured":"Tidyman WE, Rauen KA : The RASopathies: developmental syndromes of Ras\/MAPK pathway dysregulation. Curr Opin Genet Dev 2009; 19: 230\u2013236.","journal-title":"Curr Opin Genet Dev"},{"key":"BFejhg2012145_CR3","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1159\/000276766","volume":"1","author":"M Tartaglia","year":"2010","unstructured":"Tartaglia M, Zampino G, Gelb BD : Noonan syndrome: Clinical aspects and molecular pathogenesis. Mol Syndromol 2010; 1: 2\u201326.","journal-title":"Mol Syndromol"},{"key":"BFejhg2012145_CR4","doi-asserted-by":"publisher","first-page":"500","DOI":"10.1136\/hrt.40.5.500","volume":"40","author":"LG van der Hauwaert","year":"1978","unstructured":"van der Hauwaert LG, Fryns JP, Dumoulin M, Logghe N : Cardiovascular malformations in Turner\u2019s and Noonan\u2019s syndrome. Br Heart J 1978; 40: 500\u2013509.","journal-title":"Br Heart J"},{"key":"BFejhg2012145_CR5","doi-asserted-by":"publisher","first-page":"1189","DOI":"10.1016\/0735-1097(93)90436-5","volume":"22","author":"M Burch","year":"1993","unstructured":"Burch M, Sharland M, Shinebourne E, Smith G, Patton M, McKenna W : Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment in 118 patients. J Am Coll Cardiol 1993; 22: 1189\u20131192.","journal-title":"J Am Coll Cardiol"},{"key":"BFejhg2012145_CR6","first-page":"1417","volume":"129","author":"JJ Nora","year":"1975","unstructured":"Nora JJ, Lortscher RH, Spangler RD : Echocardiographic studies of left ventricular disease in Ullrich-Noonan syndrome. Am J Dis Child 1975; 129: 1417\u20131420.","journal-title":"Am J Dis Child"},{"key":"BFejhg2012145_CR7","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1016\/S0022-3476(99)70088-0","volume":"135","author":"B Marino","year":"1999","unstructured":"Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B : Congenital heart diseases in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr 1999; 135: 703\u2013706.","journal-title":"J Pediatr"},{"key":"BFejhg2012145_CR8","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1097\/00000441-196709000-00002","volume":"254","author":"RG Sumner","year":"1967","unstructured":"Sumner RG, Phillips JH, Jacoby WJ, Tucker DH : Forme fruste of endocardial cushion defect. Am J Med Sci 1967; 254: 266\u2013283.","journal-title":"Am J Med Sci"},{"key":"BFejhg2012145_CR9","doi-asserted-by":"publisher","first-page":"1059","DOI":"10.1016\/S0031-3955(16)32629-3","volume":"18","author":"JJ Nora","year":"1971","unstructured":"Nora JJ : Etiologic factors in congenital heart disease. Pediatr Clin North Am 1971; 18: 1059\u20131074.","journal-title":"Pediatr Clin North Am"},{"key":"BFejhg2012145_CR10","doi-asserted-by":"publisher","first-page":"1649","DOI":"10.1016\/0002-9149(85)90998-1","volume":"55","author":"E DiSegni","year":"1985","unstructured":"DiSegni E, Pierpont MEM, Bass JL, Kaplinsky E : Two dimensional echocardiography in detection of endocardial cushion defect in families. Am J Cardiol 1985; 55: 1649\u20131652.","journal-title":"Am J Cardiol"},{"key":"BFejhg2012145_CR11","first-page":"1295","volume":"147","author":"MC Digilio","year":"1993","unstructured":"Digilio MC, Marino B, Cicini MP, Giannotti A, Formigari R, Dallapiccola B : Risk of congenital heart defects in relatives of patients with atrioventricular canal. Am J Dis Child 1993; 147: 1295\u20131297.","journal-title":"Am J Dis Child"},{"key":"BFejhg2012145_CR12","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1136\/hrt.72.3.301","volume":"72","author":"MC Digilio","year":"1994","unstructured":"Digilio MC, Marino B, Giannotti A, Dallapiccola B : Familial atrioventricular septal defect: possibile genetic mechanism. Br Heart J 1994; 72: 301.","journal-title":"Br Heart J"},{"key":"BFejhg2012145_CR13","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1007\/BF00210591","volume":"93","author":"AJ Cousineau","year":"1994","unstructured":"Cousineau AJ, Lauer RM, Pierpont ME et al: Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21. Hum Genet 1994; 93: 103\u2013108.","journal-title":"Hum Genet"},{"key":"BFejhg2012145_CR14","first-page":"3","volume-title":"Genetics of Cardiovascular Disease","author":"EB Clark","year":"1986","unstructured":"Clark EB : Mechanisms in the pathogenesis of congenital heart defects; in Pierpont MEM, Moller JH, (eds): Genetics of Cardiovascular Disease. Martinus-Nijoff Publishing: Boston, 1986; pp 3\u201311."},{"key":"BFejhg2012145_CR15","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1016\/S0146-0005(96)80062-0","volume":"29","author":"EB Clark","year":"1996","unstructured":"Clark EB : Pathogenetic mechanism of congenital cardiovascular malformations revisited. Semin Perinatal 1996; 29: 465\u2013472.","journal-title":"Semin Perinatal"},{"key":"BFejhg2012145_CR16","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1002\/(SICI)1096-8628(19990716)85:2<140::AID-AJMG8>3.0.CO;2-A","volume":"85","author":"MC Digilio","year":"1999","unstructured":"Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B : Atrioventricular canal defect without Down sindrome: a heterogeneous malformation. Am J Med Genet 1999; 85: 140\u2013146.","journal-title":"Am J Med Genet"},{"key":"BFejhg2012145_CR17","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1016\/S1054-8807(00)00050-8","volume":"9","author":"B Marino","year":"2000","unstructured":"Marino B, Digilio MC : Congenital heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype. Cardiovasc Pathol 2000; 9: 303\u2013315.","journal-title":"Cardiovasc Pathol"},{"key":"BFejhg2012145_CR18","doi-asserted-by":"publisher","first-page":"949","DOI":"10.1007\/BF01958636","volume":"154","author":"B Marino","year":"1995","unstructured":"Marino B, Gagliardi MG, Digilio MC et al: Noonan syndrome: structural abnormalities of the mitral valve causing subaortic obstruction. Eur J Pediatr 1995; 154: 949\u2013952.","journal-title":"Eur J Pediatr"},{"key":"BFejhg2012145_CR19","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1086\/341528","volume":"71","author":"MC Digilio","year":"2002","unstructured":"Digilio MC, Conti E, Sarkozy A et al: Grouping the multiple-lentigines\/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet 2002; 71: 389\u2013394.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2012145_CR20","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1159\/000331266","volume":"1","author":"MC Digilio","year":"2010","unstructured":"Digilio MC, Lepri F, Baban A et al: RASopathies: Clinical diagnosis in the first year of life. Mol Syndromol 2010; 1: 282\u2013289.","journal-title":"Mol Syndromol"},{"key":"BFejhg2012145_CR21","doi-asserted-by":"publisher","first-page":"704","DOI":"10.1136\/jmg.40.9.704","volume":"40","author":"A Sarkozy","year":"2003","unstructured":"Sarkozy A, Conti E, Seripa D et al: Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J Med Genet 2003; 40: 704\u2013708.","journal-title":"J Med Genet"},{"key":"BFejhg2012145_CR22","doi-asserted-by":"publisher","first-page":"e1325","DOI":"10.1542\/peds.2006-0211","volume":"119","author":"Y Sznajer","year":"2007","unstructured":"Sznajer Y, Keren B, Baumann C et al: The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene. Pediatrics 2007; 119: e1325\u2013e1331.","journal-title":"Pediatrics"},{"key":"BFejhg2012145_CR23","doi-asserted-by":"publisher","first-page":"1555","DOI":"10.1086\/340847","volume":"70","author":"M Tartaglia","year":"2002","unstructured":"Tartaglia M, Mehler EL, Goldberg R et al: PTPN11 mutations in Noonan syndrome: Molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 2002; 70: 1555\u20131563.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2012145_CR24","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1038\/sj.ejhg.5200935","volume":"11","author":"L Musante","year":"2003","unstructured":"Musante L, Kehl HG, Majewski F et al: Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Eur J Hum Genet 2003; 11: 201\u2013206.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2012145_CR25","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1016\/j.jpeds.2003.11.032","volume":"144","author":"M Zenker","year":"2004","unstructured":"Zenker M, Buheitel G, Rauch R et al: Genotype-phenotype correlations in Noonan syndrome. J Pediatr 2004; 144: 368\u2013374.","journal-title":"J Pediatr"},{"issue":"Suppl 3","key":"BFejhg2012145_CR26","first-page":"56","volume":"62","author":"M Jongmans","year":"2004","unstructured":"Jongmans M, Otten B, Nordam K, van der Burgt I : Genetics and variation in phenotype in Noonan syndrome. Horm Res 2004; 62 (Suppl 3): 56\u201359.","journal-title":"Horm Res"},{"key":"BFejhg2012145_CR27","doi-asserted-by":"publisher","first-page":"186","DOI":"10.1089\/gte.2006.10.186","volume":"10","author":"DR Bertola","year":"2006","unstructured":"Bertola DR, Pereira AC, Albano LM, De Oliveira PS, Kim CA, Krieger JE : PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. Genet Test 2006; 10: 186\u2013191.","journal-title":"Genet Test"},{"key":"BFejhg2012145_CR28","doi-asserted-by":"publisher","first-page":"486","DOI":"10.1002\/ajmg.a.33857","volume":"155A","author":"AE Lin","year":"2011","unstructured":"Lin AE, Alexander ME, Colan SD et al: Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras\/MAPK pathway syndrome. Am J Med Genet 2011; 155A: 486\u2013507.","journal-title":"Am J Med Genet"},{"key":"BFejhg2012145_CR29","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1186\/1750-1172-2-4","volume":"2","author":"I van der Burgt","year":"2007","unstructured":"van der Burgt I : Noonan syndrome. Orphanet J Rare Dis 2007; 2: 4.","journal-title":"Orphanet J Rare Dis"},{"key":"BFejhg2012145_CR30","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1016\/0002-9343(76)90764-6","volume":"60","author":"DA Voron","year":"1976","unstructured":"Voron DA, Hatfield HH, Kalkhoff RK : Multiple lentigines syndrome. Case report and review of the literature. Am J Med 1976; 60: 447\u2013456.","journal-title":"Am J Med"},{"key":"BFejhg2012145_CR31","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1002\/ajmg.10681","volume":"112","author":"NI Kavamura","year":"2002","unstructured":"Kavamura NI, Peres CA, Alchhorne MMA, Brunoni D : CFC index for the diagnosis of cardiofaciocutaneous syndrome. Am J Med Genet 2002; 112: 12\u201316.","journal-title":"Am J Med Genet"},{"key":"BFejhg2012145_CR32","doi-asserted-by":"publisher","first-page":"1472","DOI":"10.1002\/ajmg.a.31815","volume":"143A","author":"KW Gripp","year":"2007","unstructured":"Gripp KW, Lin AE, Nicholson L et al: Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate Cardio-facio-cutaneous syndrome from Costello syndrome. Am J Med Genet 2007; 143A: 1472\u20131480.","journal-title":"Am J Med Genet"},{"key":"BFejhg2012145_CR33","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1038\/ng1748","volume":"38","author":"S Schubbert","year":"2006","unstructured":"Schubbert S, Zenker M, Rowe SL et al: Germline KRAS mutations cause Noonan syndrome. Nat Genet 2006; 38: 331\u2013336.","journal-title":"Nat Genet"},{"key":"BFejhg2012145_CR34","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1038\/ejhg.2008.188","volume":"17","author":"TE Neumann","year":"2009","unstructured":"Neumann TE, Allanson J, Kavamura I et al: Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. Eur J Hum Genet 2009; 17: 420\u2013425.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2012145_CR35","doi-asserted-by":"publisher","first-page":"e68","DOI":"10.1136\/jmg.2003.013466","volume":"41","author":"A Sarkozy","year":"2004","unstructured":"Sarkozy A, Conti E, Digilio MC et al: Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD sindrome. J Med Genet 2004; 41: e68.","journal-title":"J Med Genet"},{"key":"BFejhg2012145_CR36","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/S0022-5223(94)70020-6","volume":"108","author":"A Starr","year":"1994","unstructured":"Starr A, Hovaguimian H : Surgical repair of subaortic stenosis in atrioventricular canal defects. J Thorac Cardiovasc Surg 1994; 108: 373\u2013376.","journal-title":"J Thorac Cardiovasc Surg"},{"key":"BFejhg2012145_CR37","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1007\/BF00796828","volume":"16","author":"LR Feit","year":"1995","unstructured":"Feit LR, Hansen K, Oyer CE, Werner JC : Unusual combination of congenital heart defects in an infant with Noonan syndrome. Pediatr Cardiol 1995; 16: 95\u201399.","journal-title":"Pediatr Cardiol"},{"key":"BFejhg2012145_CR38","first-page":"752","volume":"144","author":"B Marino","year":"1990","unstructured":"Marino B, Guccione P, Marcelletti C, Dallapiccola B : Atrioventricular canal without Down syndrome associated with additional cardiac and noncardiac anomalies. Am J Dis Child 1990; 144: 752.","journal-title":"Am J Dis Child"},{"key":"BFejhg2012145_CR39","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1002\/ajmg.a.30789","volume":"136A","author":"CG Weismann","year":"2005","unstructured":"Weismann CG, Hager A, Kaemmerer H et al: PTPN11 mutations play a minor role in isolated congenital heart disease. Am J Med Genet 2005; 136A: 146\u2013151.","journal-title":"Am J Med Genet"},{"key":"BFejhg2012145_CR40","doi-asserted-by":"publisher","first-page":"2018","DOI":"10.1093\/hmg\/ddn099","volume":"17","author":"S Martinelli","year":"2008","unstructured":"Martinelli S, Torreri P, Tinti M et al: Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. Hum Mol Genet 2008; 17: 2018\u20132029.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2012145_CR41","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1161\/01.RES.0000186194.06514.b0","volume":"97","author":"M Krenz","year":"2005","unstructured":"Krenz M, Yutzey KE, Robbins J : Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1\/2 signaling. Circ Res 2005; 97: 813\u2013820.","journal-title":"Circ Res"},{"key":"BFejhg2012145_CR42","doi-asserted-by":"publisher","first-page":"1421","DOI":"10.1016\/S0002-9149(84)90861-0","volume":"53","author":"RM Gow","year":"1984","unstructured":"Gow RM, Freedom RM, Williams WG, Trusler GA, Rowe RD : Coarctation of the aorta or subaortic stenosis with atrioventricular septal defect. Am J Cardiol 1984; 53: 1421\u20131428.","journal-title":"Am J Cardiol"},{"key":"BFejhg2012145_CR43","doi-asserted-by":"publisher","first-page":"1188","DOI":"10.1161\/01.CIR.84.3.1188","volume":"84","author":"HG Klues","year":"1991","unstructured":"Klues HG, Roberts WC, Maron BJ : Anomalous insertion of papillary muscle directly into anterior mitral leaflet in hypertrophic cardiomyopathy. Significance in producing left ventricular outflow obstruction. Circulation 1991; 84: 1188\u20131197.","journal-title":"Circulation"},{"key":"BFejhg2012145_CR44","doi-asserted-by":"publisher","first-page":"1651","DOI":"10.1161\/01.CIR.85.5.1651","volume":"85","author":"HG Klues","year":"1992","unstructured":"Klues HG, Maron BJ, Dollar AL, Roberts WC : Diversity of structural mitral valve alterations in hypertrophic cardiomyopathy. Circulation 1992; 85: 1651\u20131660.","journal-title":"Circulation"},{"key":"BFejhg2012145_CR45","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1161\/CIRCULATIONAHA.110.985812","volume":"124","author":"MS Maron","year":"2011","unstructured":"Maron MS, Olivotto I, Harrigan C et al: Mitral valve abnormalities identified by cardiovascular magnetic resonance represent a primary phenotypic expression of hypertrophic cardiomyopahy. Circulation 2011; 124: 40\u201347.","journal-title":"Circulation"},{"key":"BFejhg2012145_CR46","first-page":"109","volume-title":"Noonan Syndrome and Related Disorders. Monographs on Human Genetics","author":"MC Digilio","year":"2009","unstructured":"Digilio MC, Marino B, Sarkozy A, Versacci P, Dallapiccola B : The heart in Ras-MAPK pathway disorders; in Zenker M, (ed): Noonan Syndrome and Related Disorders. Monographs on Human Genetics. Karger: Basel, 2009; vol 17: pp 109\u2013118."},{"key":"BFejhg2012145_CR47","doi-asserted-by":"publisher","first-page":"1007","DOI":"10.1038\/ng2073","volume":"8","author":"B Pandit","year":"2007","unstructured":"Pandit B, Sarkozy A, Pennacchio LA et al: Gain-of-function RAF1 mutations cause Noonan syndrome and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet 2007; 8: 1007\u20131012.","journal-title":"Nat Genet"},{"key":"BFejhg2012145_CR48","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1111\/j.1399-0004.2007.00839.x","volume":"72","author":"ST Lee","year":"2007","unstructured":"Lee ST, Ki CS, Lee HJ : Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome. Clin Genet 2007; 72: 150\u2013155.","journal-title":"Clin Genet"},{"key":"BFejhg2012145_CR49","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1136\/adc.2006.104547","volume":"92","author":"AC Shaw","year":"2007","unstructured":"Shaw AC, Kalidas K, Crosby AH, Jeffery S, Patton MA : The natural history of Noonan syndrome: a long-term follow-up study. Arch Dis Child 2007; 92: 128\u2013132.","journal-title":"Arch Dis Child"},{"key":"BFejhg2012145_CR50","doi-asserted-by":"publisher","first-page":"3529","DOI":"10.1210\/jcem.87.8.8694","volume":"87","author":"K Kosaki","year":"2002","unstructured":"Kosaki K, Suzuki T, Muroya K et al: PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. J Clin Endocrinol Metab 2002; 87: 3529\u20133533.","journal-title":"J Clin Endocrinol Metab"},{"key":"BFejhg2012145_CR51","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1002\/humu.10129","volume":"20","author":"M Maheshwari","year":"2002","unstructured":"Maheshwari M, Belmont J, Fernbach S et al: PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. Hum Mut 2002; 20: 298\u2013304.","journal-title":"Hum Mut"},{"key":"BFejhg2012145_CR52","doi-asserted-by":"publisher","first-page":"1249","DOI":"10.1002\/ajmg.a.31738","volume":"143A","author":"K Becker","year":"2007","unstructured":"Becker K, Hughes H, Howard K et al: Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations. Am J Med Genet 2007; 143A: 1249\u20131252.","journal-title":"Am J Med Genet"},{"key":"BFejhg2012145_CR53","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1590\/S0004-27302010000800009","volume":"54","author":"AS Brasil","year":"2010","unstructured":"Brasil AS, Malaquias AC, Wanderley LT et al: Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? Arq Bras Endocrinol Metabol 2010; 54: 717\u2013722.","journal-title":"Arq Bras Endocrinol Metabol"},{"key":"BFejhg2012145_CR54","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1002\/ajmg.a.30582","volume":"134A","author":"MC Digilio","year":"2005","unstructured":"Digilio MC, Capolino R, Marino B, Sarkozy A, Dallapiccola B. : Congenital intrahepatic portosystemic venous shunt: An unusual feature in LEOPARD syndrome and in Neurofibromatosis type 1. Am J Med Genet 2005; 134A: 457\u2013458.","journal-title":"Am J Med Genet"},{"key":"BFejhg2012145_CR55","doi-asserted-by":"publisher","first-page":"736","DOI":"10.1016\/j.amjcard.2007.03.093","volume":"100","author":"G Limongelli","year":"2007","unstructured":"Limongelli G, Pacileo G, Marino B et al: Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome. Am J Cardiol 2007; 100: 736\u2013741.","journal-title":"Am J Cardiol"},{"key":"BFejhg2012145_CR56","doi-asserted-by":"publisher","first-page":"620","DOI":"10.1002\/ajmg.a.32206","volume":"146A","author":"G Limongelli","year":"2008","unstructured":"Limongelli G, Sarkozy A, Pacileo G et al: Genotype\u2013phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome. Am J Med Genet 2008; 146A: 620\u2013628.","journal-title":"Am J Med Genet"},{"key":"BFejhg2012145_CR57","doi-asserted-by":"publisher","first-page":"1013","DOI":"10.1038\/ng2078","volume":"39","author":"MA Razzaque","year":"2007","unstructured":"Razzaque MA, Nishizawa T, Komoike Y et al: Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet 2007; 39: 1013\u20131017.","journal-title":"Nat Genet"},{"key":"BFejhg2012145_CR58","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1002\/humu.20955","volume":"30","author":"A Sarkozy","year":"2009","unstructured":"Sarkozy A, Carta C, Moretti S et al: Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat 2009; 30: 695\u2013702.","journal-title":"Hum Mutat"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2012145.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2012145","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2012145.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T13:05:56Z","timestamp":1684415156000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2012145"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,7,11]]},"references-count":58,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,2]]}},"alternative-id":["BFejhg2012145"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2012.145","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,7,11]]}}}