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Results 1 - 7 of 7 for Noonan syndrome 8
  1. RAF1 gene 
    ... Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet. 2007 Aug;39(8):1013-7. doi: 10.1038/ng2078. Epub 2007 Jul 1. Citation on PubMed Romano AA, Allanson JE, Dahlgren J, Gelb ... clinical features, diagnosis, and management guidelines. Pediatrics. 2010 ...
    https://medlineplus.gov/genetics/gene/raf1 - Genetics
  2. 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.2016.01.002. Epub 2016 Mar 8. No abstract available. English, Spanish. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/sos1 - Genetics
  3. LRP2 gene 
    ... Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet. 2007 Aug;39(8):957-9. doi: 10.1038/ng2063. Epub 2007 ...
    https://medlineplus.gov/genetics/gene/lrp2 - Genetics
  4. MAP2K1 gene 
    ... Genes Chromosomes Cancer. 2015 Jun;54(6):361-8. doi: 10.1002/gcc.22247. Epub ... in a patient with Noonan syndrome with multiple lentigines. Am J Med Genet A. ...
    https://medlineplus.gov/genetics/gene/map2k1 - Genetics
  5. MAP2K2 gene 
    ... J Med Genet A. 2007 Apr 15;143A(8):799-807. doi: 10.1002/ajmg.a.31658. Citation on PubMed ... and Noonan syndromes due to mutations in the RAS/MAPK signalling ...
    https://medlineplus.gov/genetics/gene/map2k2 - Genetics
  6. BRAF gene 
    ... This Health Condition MedlinePlus Genetics provides information about Noonan syndrome More About This Health Condition At least two ... the BRAF gene have been found to cause Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome). This ...
    https://medlineplus.gov/genetics/gene/braf - Genetics
  7. LZTR1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Noonan syndrome More About This Health Condition Mutations in the ...
    https://medlineplus.gov/genetics/gene/lztr1 - Genetics