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Results 1 - 10 of 10 for Noonan syndrome 4
  1. SOS1 gene 
    ... Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet. 2007 Jan;39(1):70-4. doi: 10.1038/ng1926. Epub 2006 Dec 3. ... Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, ... Pediatrics. 2010 Oct;126(4):746-59. doi: 10.1542/peds.2009-3207. ...
    https://medlineplus.gov/genetics/gene/sos1 - Genetics
  2. NRAS gene 
    ... Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct;126(4):746-59. doi: 10.1542/peds.2009-3207. ...
    https://medlineplus.gov/genetics/gene/nras - Genetics
  3. BRAF gene 
    ... Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct;126(4):746-59. doi: 10.1542/peds.2009-3207. ...
    https://medlineplus.gov/genetics/gene/braf - Genetics
  4. RAF1 gene 
    ... Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct;126(4):746-59. doi: 10.1542/peds.2009-3207. ...
    https://medlineplus.gov/genetics/gene/raf1 - Genetics
  5. PTPN11 gene 
    ... Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct;126(4):746-59. doi: 10.1542/peds.2009-3207. ...
    https://medlineplus.gov/genetics/gene/ptpn11 - Genetics
  6. KRAS gene 
    ... Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct;126(4):746-59. doi: 10.1542/peds.2009-3207. ...
    https://medlineplus.gov/genetics/gene/kras - Genetics
  7. MAP2K1 gene 
    ... the MAP2K1 gene has been found to cause Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome). This ... and tissues, resulting in the characteristic features of Noonan syndrome with multiple lentigines.It is unclear why the ...
    https://medlineplus.gov/genetics/gene/map2k1 - Genetics
  8. DYNC2H1 gene 
    ... also known as Verma-Naumoff syndrome or Saldino-Noonan syndrome. These disorders have signs and symptoms similar to ... retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet. 2009 Apr;84(4):542-9. doi: 10.1016/j.ajhg.2009. ...
    https://medlineplus.gov/genetics/gene/dync2h1 - Genetics
  9. MAP2K2 gene 
    ... Verloes A, Cave H. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling ... within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science. 2006 Mar ... hyperplasia. Dev Cell. 2007 Apr;12(4):615-29. doi: 10.1016/j.devcel.2007. ...
    https://medlineplus.gov/genetics/gene/map2k2 - Genetics
  10. 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