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Noonan syndrome 5
- ... Testing Registry: Noonan syndrome 4 Genetic Testing Registry: Noonan syndrome 5 Genetic Testing Registry: Noonan syndrome 6 Genetic Testing ... NOONAN SYNDROME 4; NS4 NOONAN SYNDROME 3; NS3 NOONAN SYNDROME 5; NS5 NOONAN SYNDROME 8; NS8 NOONAN SYNDROME 7; ...
- ... hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome? J Med Genet. 1993 May;30(5):425-6. doi: 10.1136/jmg.30.5. ...
- ... 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 ...
- ... Library of Medicine (US); [updated 2020 Jun 24]. Noonan syndrome; [updated 2020 Jun 18; reviewed 2018 Jun 01; cited 2020 Jul 1]; [about 5 p.]. Available from: https://medlineplus.gov/genetics/condition/noonan-syndrome/ . Drug Information Begin by citing the AHFS Patient Medication Information database, then add information about the drug being cited: AHFS Patient Medication Information [Internet]. Bethesda (MD): American Society of Health-System Pharmacists, Inc.; c2019. Protriptyline; [updated 2020 Jun 24; reviewed 2018 Jul 5; cited 2020 Jul 1]; [about 5 p.]. Available ...
- ... 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 ...
- ... Curr Opin Neurol. 2004 Apr;17(2):101-5. doi: 10.1097/00019052-200404000-00004. ... with Neurofibromatosis-Noonan syndrome (NFNS). Am J Med Genet A. 2003 May ...
- ... of two other genetic conditions, Costello syndrome and Noonan syndrome. The three conditions are distinguished by their genetic ... affected individuals may actually have Costello syndrome or Noonan syndrome, which are also caused by variants in genes ...