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Results 1 - 8 of 8 for Noonan syndrome 12
  1. 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
  2. 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. Citation on PubMed Tidyman WE, Rauen KA. Mutational ...
    https://medlineplus.gov/genetics/gene/kras - Genetics
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. LRP2 gene 
    ... Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR. Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous ...
    https://medlineplus.gov/genetics/gene/lrp2 - Genetics