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A new syndrome with associated congenital heart disease. Am J Dis Child 116: 373\u2013380.","DOI":"10.1001\/archpedi.1968.02100020377005"},{"key":"2","doi-asserted-by":"publisher","unstructured":"2 Roberts AE, Allanson JE, Tartaglia M, Gelb BD (2013) Noonan syndrome. Lancet 381: 333\u2013342.","DOI":"10.1016\/S0140-6736(12)61023-X"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3 Nora JJ, Nora AH, Sinha AK, Spangler RD, Lubs HA (1974) The Ullrich-Noonan syndrome (Turner phenotype). Am J Dis Child 127: 48\u201355.","DOI":"10.1001\/archpedi.1974.02110200050007"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4 van der Burgt I, Berends E, Lommen E, van Beersum S, Hamel B, et al. (1994) Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet 53: 187\u2013191.","DOI":"10.1002\/ajmg.1320530213"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5 Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, et al. (2001) Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29: 465\u2013468.","DOI":"10.1038\/ng772"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6 Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, et al. (2007) Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet 39: 70\u201374.","DOI":"10.1038\/ng1926"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7 Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, et al. (2007) Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet 39: 1007\u20131012.","DOI":"10.1038\/ng2073"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8 Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, et al. (2007) Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 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(2013) Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS\/MAPK pathway syndrome. Am J Hum Genet 93: 173\u2013180.","DOI":"10.1016\/j.ajhg.2013.05.021"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13 Rauen KA (2013) The RASopathies. Annu Rev Genomics Hum Genet 14: 355\u2013369.","DOI":"10.1146\/annurev-genom-091212-153523"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14 Tartaglia M, Gelb BD (2010) Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms. Ann N Y Acad Sci 1214: 99\u2013121.","DOI":"10.1111\/j.1749-6632.2010.05790.x"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15 Aoki Y, Niihori T, Inoue S, Matsubara Y (2016) Recent advances in RASopathies. J Hum Genet 61: 33\u201339.","DOI":"10.1038\/jhg.2015.114"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16 Zenker M, Buheitel G, Rauch R, Koenig R, Bosse K, et al. (2004) Genotype-phenotype correlations in Noonan syndrome. J Pediatr 144: 368\u2013374.","DOI":"10.1016\/j.jpeds.2003.11.032"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17 Limal JM, Parfait B, Cabrol S, Bonnet D, Leheup B, et al. (2006) Noonan syndrome: relationships between genotype, growth, and growth factors. J Clin Endocrinol Metab 91: 300\u2013306.","DOI":"10.1210\/jc.2005-0983"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18 Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, et al. (2002) PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 70: 1555\u20131563.","DOI":"10.1086\/340847"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19 Malaquias AC, Brasil AS, Pereira AC, Arnhold IJ, Mendonca BB, et al. (2012) Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS\/MAPK pathway. 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