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Noonan syndrome 5
- ... mutations in PTPN11 gene in two girls with Noonan syndrome phenotype. Int J Cardiol. 2015;186:13-5. doi: 10.1016/j.ijcard.2015.03.260. Epub 2015 Mar 19. No abstract available. Citation on PubMed ... Collaborative Noonan Study Group. PTPN11 mutations in patients with LEOPARD ...
- ... Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. Hum Genet. 2016 Feb;135(2):209-22. doi: 10.1007/s00439-015-1627-5. Epub 2015 Dec 29. Citation on PubMed
- ... W, Hudgins L. Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation. Am J Med Genet A. 2015 Apr;167A(4):882-5. doi: 10.1002/ajmg.a.37024. Epub 2015 ...
- ... Shannon K, Kratz CP. Germline KRAS mutations cause Noonan syndrome. Nat Genet. 2006 Mar;38(3):331-6. doi: 10.1038/ng1748. Epub 2006 Feb 12. Erratum In: Nat Genet. 2006 May;38(5):598. Citation on PubMed Tidyman WE, Rauen KA. ...
- ... Hematol Oncol Clin North Am. 2015 Oct;29(5):839-51. doi: 10.1016/j.hoc.2015.06.004. ... clinical features, diagnosis, and management guidelines. Pediatrics. 2010 ...
- ... also known as Verma-Naumoff syndrome or Saldino-Noonan syndrome. These disorders have signs and symptoms similar to ... cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 2009 May;84(5):706-11. doi: 10.1016/j.ajhg.2009. ...
- ... This Health Condition MedlinePlus Genetics provides information about Noonan syndrome More About This Health Condition Mutations in the ...