PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/jhg2008128.pdf
Reference36 articles.
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2. Allanson JE, Hall JG, Hughes HE, Preus M, Witt RD (1985) Noonan syndrome: the changing phenotype. Am J Med Genet 21:507–514
3. Bertola DR, Pereira AC, Albano LM, De Oliveira PS, Kim CA, Krieger JE (2006) PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. Genet Test 10:186–191
4. Binder G, Neuer K, Ranke MB, Wittekindt NE (2005) PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome. J Clin Endocrinol Metab 90:5377–5381
5. Bueno OF, De Windt LJ, Tymitz KM, Witt SA, Kimball TR, Klevitsky R, Hewett TE, Jones SP, Lefer DJ, Peng CF, Kitsis RN, Molkentin JD (2000) The MEK1-ERK1/2 signaling pathway promotes compensated cardiac hypertrophy in transgenic mice. Embo J 19:6341–6350
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