1. Mendez HM, Opitz JM. Noonan syndrome: a review. Am J Med Genet 1985;21:493–506. PMID:
3895929.
2. Sharland M, Burch M, McKenna WM, Paton MA. A clini cal study of Noonan syndrome. Arch Dis Child 1992;67:178–183. PMID:
1543375.
3. Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001;29:465–468. PMID:
11704759.
4. Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, et al. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet 2007;39:70–74. PMID:
17143285.
5. Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, et al. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet 2007;39:75–79. PMID:
17143282.
6. Kobayashi T, Aoki Y, Niihori T, Cave H, Verloes A, Okamoto N, et al. Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Hum Mutat 2010;31:284–294. PMID:
20052757.
8. Ko JM, Kim JM, Kim GH, Yoo HW. PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. J Hum Genet 2008;53:999–1006. PMID:
19020799.
9. Lee BH, Kim JM, Jin HY, Kim GH, Choi JH, Yoo HW. Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. J Pediatr 2011;159:1029–1035. PMID:
21784453.
11. Choi JH, Oh MY, Yum MS, Lee BH, Kim GH, Yoo HW. Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair. Pediatr Neurol 2015;52:352–355. PMID:
25563136.
12. Gelb BD, Tartaglia M. Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction. Hum Mol Genet 2006;15(Spec No 2):R220–R226. PMID:
16987887.
13. Noonan JA. Noonan syndrome and related disorders: alterations in growth and puberty. Rev Endocr Metab Disord 2006;7:251–255. PMID:
17177115.
14. Otten BJ, Noordam C. Growth in Noonan syndrome. Horm Res 2009;72(Suppl 2):31–35. PMID:
20029234.
15. Noonan JA, Kappelgaard AM. The efficacy and safety of growth hormone therapy in children with noonan syndrome: a review of the evidence. Horm Res Paediatr 2015;83:157–166. PMID:
25503994.
16. Noordam C, Peer PG, Francois I, De Schepper J, van den Burgt I, Otten BJ. Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, nonreceptor-type 11. Eur J Endocrinol 2008;159:203–208. PMID:
18562489.
17. Osio D, Dahlgren J, Wikland KA, Westphal O. Improved final height with long-term growth hormone treatment in Noonan syndrome. Acta Paediatr 2005;94:1232–1237. PMID:
16203673.
18. Choi JH, Lee BH, Jung CW, Kim YM, Jin HY, Kim JM, et al. Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutation. Horm Res Paediatr 2012;77:388–393. PMID:
22777296.
19. van der Burgt I, Berends E, Lommen E, van Beersum S, Hamel B, Mariman E. Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet 1994;53:187–191. PMID:
7856646.
20. Korea Centers for Disease Control and Prevention, Division of Chronic Disease Surveillance, Committee for the Development of Growth Standard for Korean Children and Adolescents. Korean Pediatric Society, Committee for School Health and Public Health Statistics. 2007 Korean children and adolescents growth standard (commentary for the development of 2007 growth chart). Cheongju: Korea Centers for Disease Control and Prevention, Division of Chronic Disease Surveillance. 2007.
21. Hyun SE, Lee BC, Suh BK, Chung SC, Ko CW, Kim HS, et al. Reference values for serum levels of insulin-like growth factor-I and insulin-like growth factor binding protein-3 in Korean children and adolescents. Clin Biochem 2012;45:16–21. PMID:
22032863.
22. Greulich WW, Pyle SI. Radiographic atlas of skeletal development of the hand and wrist. 2nd ed. Stanford: Stanford University Press. 1959.
23. Cotterill AM, McKenna WJ, Brady AF, Sharland M, Elsawi M, Yamada M, et al. The short-term effects of growth hormone therapy on height velocity and cardiac ventricular wall thickness in children with Noonan's syndrome. J Clin Endocrinol Metab 1996;81:2291–2297. PMID:
8964866.
24. MacFarlane CE, Brown DC, Johnston LB, Patton MA, Dunger DB, Savage MO, et al. Growth hormone therapy and growth in children with Noonan's syndrome: results of 3 years' follow-up. J Clin Endocrinol Metab 2001;86:1953–1956. PMID:
11344190.
25. Binder G, Neuer K, Ranke MB, Wittekindt NE. PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome. J Clin Endocrinol Metab 2005;90:5377–5381. PMID:
15985475.
26. Limal JM, Parfait B, Cabrol S, Bonnet D, Leheup B, Lyonnet S, et al. Noonan syndrome: relationships between genotype, growth, and growth factors. J Clin Endocrinol Metab 2006;91:300–306. PMID:
16263833.
27. De Rocca Serra-Nedelec A, Edouard T, Treguer K, Tajan M, Araki T, Dance M, et al. Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature. Proc Natl Acad Sci U S A 2012;109:4257–4262. PMID:
22371576.
28. Burch M, Sharland M, Shinebourne E, Smith G, Patton M, McKenna W. Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients. J Am Coll Cardiol 1993;22:1189–1192. PMID:
8409059.
29. 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;135:703–706. PMID:
10586172.
30. Noordam C, Draaisma JM, van den Nieuwenhof J, van der Burgt I, Otten BJ, Daniels O. Effects of growth hormone treatment on left ventricular dimensions in children with Noonan's syndrome. Horm Res 2001;56:110–113. PMID:
11847472.