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Results 1 - 10 of 17 for Noonan syndrome 13
  1. Congenital heart disease 
    ... Examples include: DiGeorge syndrome Down syndrome Marfan syndrome Noonan syndrome Edwards syndrome Trisomy 13 Turner syndrome Often, no cause for the heart ...
    https://medlineplus.gov/ency/article/001114.htm - Medical Encyclopedia
  2. PTPN11 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/ptpn11 - Genetics
  3. Noonan syndrome 
    ... during menstruation (menorrhagia) or childbirth.Adolescent males with Noonan syndrome typically experience delayed puberty. They go through puberty starting at age 13 or 14 and have a reduced pubertal growth ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  4. Cyanotic heart disease 
    ... and chromosomal syndromes, such as Down syndrome , trisomy 13 , Turner syndrome , Marfan syndrome , and Noonan syndrome Infections (such as rubella ) during pregnancy Poorly ...
    https://medlineplus.gov/ency/article/001104.htm - Medical Encyclopedia
  5. SOS1 gene 
    ... function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet. 2007 Jan;39(1):75-9. doi: 10.1038/ng1939. Epub 2006 Dec 13. Erratum In: Nat Genet. 2007 Feb;39(2): ...
    https://medlineplus.gov/genetics/gene/sos1 - Genetics
  6. Noonan syndrome with multiple lentigines 
    Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome) is a condition that affects many areas of the body. As the condition name suggests, ...
    https://medlineplus.gov/.../noonan-syndrome-with-multiple-lentigines - Genetics
  7. KRAS gene 
    ... This Health Condition MedlinePlus Genetics provides information about Noonan syndrome More About This Health Condition MedlinePlus Genetics provides ... 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
  8. 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
  9. Cardiofaciocutaneous syndrome 
    ... 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 ...
    https://medlineplus.gov/.../condition/cardiofaciocutaneous-syndrome - Genetics
  10. Neurofibromatosis type 1 
    ... in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). Am J Med Genet A. 2003 May ... mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet. 2005 Dec;77(6): ...
    https://medlineplus.gov/genetics/condition/neurofibromatosis-type-1 - Genetics
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