1. Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010; 126:746–59.
Article
2. Schubbert S, Zenker M, Rowe SL, Böll S, Klein C, Bollag G, et al. Germline KRAS mutations cause Noonan syndrome. Nat Genet. 2006; 38:331–6.
Article
3. 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.
Article
4. 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; 53:187–91.
Article
5. Allanson JE, Bohring A, Dörr HG, Dufke A, Gillessen-Kaesbach G, Horn D, et al. The face of Noonan syndrome: Does phenotype predict genotype. Am J Med Genet A. 2010; 152A:1960–6.
Article
6. 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; 29:465–8.
Article
7. Lepri FR, Scavelli R, Digilio MC, Gnazzo M, Grotta S, Dentici ML, et al. Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. BMC Med Genet. 2014; 15:14.
Article
8. Aoki Y, Niihori T, Inoue S, Matsubara Y. Recent advances in RASopathies. J Hum Genet. 2016; 61:33–9.
Article
9. Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, et al. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet. 2007; 44:131–5.
Article
10. Lim JS, Hwang JS, Lee JA, Kim DH, Park KD, Cheon GJ, et al. Bone mineral density according to age, bone age, and pubertal stages in korean children and adolescents. J Clin Densitom. 2010; 13:68–76.
Article
11. Zenker M, Buheitel G, Rauch R, Koenig R, Bosse K, Kress W, et al. Genotype-phenotype correlations in Noonan syndrome. J Pediatr. 2004; 144:368–74.
Article
12. Seaver LH, Irons M; American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committee. ACMG practice guideline: genetic evaluation of short stature. Genet Med. 2009; 11:465–70.
Article
13. Dauber A, Rosenfeld RG, Hirschhorn JN. Genetic evaluation of short stature. J Clin Endocrinol Metab. 2014; 99:3080–92.
Article
14. Şıklar Z, Berberoğlu M. Syndromic disorders with short stature. J Clin Res Pediatr Endocrinol. 2014; 6:1–8.
Article
15. Lisi EC, Cohn RD. Genetic evaluation of the pediatric patient with hypotonia: perspective from a hypotonia specialty clinic and review of the literature. Dev Med Child Neurol. 2011; 53:586–99.
Article
16. Niihori T, Aoki Y, Narumi Y, Neri G, Cavé H, Verloes A, et al. Germline KRAS and BRAF mutations in cardio-faciocutaneous syndrome. Nat Genet. 2006; 38:294–6.
Article
17. Shaw AC, Kalidas K, Crosby AH, Jeffery S, Patton MA. The natural history of Noonan syndrome: a long-term followup study. Arch Dis Child. 2007; 92:128–32.
Article
18. George CD, Patton MA, el Sawi M, Sharland M, Adam EJ. Abdominal ultrasound in Noonan syndrome: a study of 44 patients. Pediatr Radiol. 1993; 23:316–8.
Article
19. Kim SW, Park SE, Jeong IH, Yoon JW, Lee CA, Jeon JH. Noonan syndrome confirmed to KRAS gene mutation: a case of KRAS gene mutation. J Korean Soc Neonatol. 2011; 18:374–8.
Article