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Results 1 - 7 of 7 for Noonan syndrome 7
  1. ... 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 BD, Hall ... clinical features, diagnosis, and management guidelines. Pediatrics. 2010 ...
  2. ... T, Houweling AC. Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature. Am J Med Genet A. 2016 Jul;170(7):1874-80. doi: 10.1002/ajmg.a.37657. ...
  3. ... Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, ... A. 2008 Jul 15;146A(14):1842-7. doi: 10.1002/ajmg.a.32381. Citation on ...
  4. ... 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 ...
  5. ... 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 ...
  6. ... also known as Verma-Naumoff syndrome or Saldino-Noonan syndrome. These disorders have signs and symptoms similar to ... in a patient with severe short-rib polydactyly syndrome type III phenotype. Congenit Anom (Kyoto). 2015 Aug;55(3):155-7. doi: 10.1111/cga.12098. Citation on PubMed ...
  7. ... This Health Condition MedlinePlus Genetics provides information about Noonan syndrome More About This Health Condition Mutations in the ...