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Results 1 - 10 of 42 for Noonan syndrome 2
  1. Noonan syndrome 
    ... Testing Registry: Noonan syndrome 10 Genetic Testing Registry: Noonan syndrome 2 Genetic Testing Registry: Noonan syndrome 3 Genetic Testing ... Disorders (NORD) ClinicalTrials.gov NOONAN SYNDROME 1; NS1 NOONAN SYNDROME 2; NS2 NOONAN SYNDROME 4; NS4 NOONAN SYNDROME 3; ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  2. RAF1 gene 
    ... W, Hudgins L. Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation. Am ...
    https://medlineplus.gov/genetics/gene/raf1 - Genetics
  3. PTPN11 gene 
    ... Yarar C. Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype. Int J Cardiol. 2015;186:13-5. ... j.ejmg.2005.03.001. Epub 2005 Apr 2. Citation on PubMed Tartaglia M, Gelb BD. Noonan syndrome and related disorders: genetics and pathogenesis. Annu Rev ...
    https://medlineplus.gov/genetics/gene/ptpn11 - Genetics
  4. Noonan syndrome with multiple lentigines 
    ... lentigines is very similar to a condition called Noonan syndrome, and it can be difficult to tell the two disorders apart in early childhood. However, the features ...
    https://medlineplus.gov/.../noonan-syndrome-with-multiple-lentigines - Genetics
  5. KRAS gene 
    ... with those of cardiofaciocutaneous syndrome (described above) and two related disorders called Noonan syndrome and Costello syndrome. This condition has been described ...
    https://medlineplus.gov/genetics/gene/kras - Genetics
  6. RIT1 gene 
    ... MW, van Hoorn ME, Rinne T, Houweling AC. Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review ... Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients ... Hum Genet. 2016 Feb;135(2):209-22. doi: 10.1007/s00439-015-1627- ...
    https://medlineplus.gov/genetics/gene/rit1 - Genetics
  7. SOS1 gene 
    ... profile of a child with SOS1 mutation in Noonan syndrome. Neurologia (Engl Ed). 2018 Mar;33(2):137-138. doi: 10.1016/j.nrl.2016. ... function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet. 2007 ... 2007 Feb;39(2):276. Citation on PubMed Zenker M, Horn D, ...
    https://medlineplus.gov/genetics/gene/sos1 - Genetics
  8. BRAF gene 
    ... This Health Condition MedlinePlus Genetics provides information about Noonan syndrome More About This Health Condition At least two mutations in the BRAF gene have been found ...
    https://medlineplus.gov/genetics/gene/braf - Genetics
  9. Noonan syndrome with multiple lentigines 
    ... between mild and severe NSML is similar to Noonan syndrome . However, the main symptom that tells apart the two conditions is that people with NSML have lentigines.
    https://medlineplus.gov/ency/article/001473.htm - Medical Encyclopedia
  10. MAP2K1 gene 
    ... novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines. Am J Med Genet A. 2015 Feb;167A(2):407-11. doi: 10.1002/ajmg.a.36842. ...
    https://medlineplus.gov/genetics/gene/map2k1 - Genetics
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