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Results 1 - 10 of 16 for Noonan syndrome 12
  1. Noonan syndrome 
    ... Zenker M. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. Genet Med. 2016 Dec;18(12):1226-1234. doi: 10.1038/gim.2016.32. ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  2. RIT1 gene 
    ... Zenker M. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. Genet Med. 2016 Dec;18(12):1226-1234. doi: 10.1038/gim.2016.32. ...
    https://medlineplus.gov/genetics/gene/rit1 - Genetics
  3. KRAS gene 
    ... 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): ...
    https://medlineplus.gov/genetics/gene/kras - Genetics
  4. RAF1 gene 
    ... Gelb BD. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet. 2007 Aug;39(8):1007-12. doi: 10.1038/ng2073. Epub 2007 Jul 1. ...
    https://medlineplus.gov/genetics/gene/raf1 - Genetics
  5. BRAF gene 
    ... 31-9. doi: 10.1016/j.gde.2006.12.005. Citation on PubMed Gelb BD, Tartaglia M. Noonan Syndrome with Multiple Lentigines. 2007 Nov 30 [updated 2022 ...
    https://medlineplus.gov/genetics/gene/braf - Genetics
  6. MAP2K2 gene 
    ... Verloes A, Cave H. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet. 2007 Dec;44(12):763-71. doi: 10.1136/jmg.2007.050450. ...
    https://medlineplus.gov/genetics/gene/map2k2 - Genetics
  7. MAP2K1 gene 
    ... Verloes A, Cave H. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet. 2007 Dec;44(12):763-71. doi: 10.1136/jmg.2007.050450. ...
    https://medlineplus.gov/genetics/gene/map2k1 - Genetics
  8. Cardiofaciocutaneous syndrome 
    ... Verloes A, Cave H. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet. 2007 Dec;44(12):763-71. doi: 10.1136/jmg.2007.050450. ...
    https://medlineplus.gov/.../condition/cardiofaciocutaneous-syndrome - Genetics
  9. PTPN11 gene 
    ... 23-30. doi: 10.1016/j.gde.2006.12.011. Epub 2007 Jan 16. Citation on PubMed Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 ...
    https://medlineplus.gov/genetics/gene/ptpn11 - Genetics
  10. Costello syndrome 
    ... other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome. In affected infants, it can be difficult to ... These individuals may actually have CFC syndrome or Noonan syndrome, which are caused by variants in related genes. ...
    https://medlineplus.gov/genetics/condition/costello-syndrome - Genetics
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