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Noonan syndrome 3
- ... Shannon K, Kratz CP. Germline KRAS mutations cause Noonan syndrome. Nat Genet. 2006 Mar;38(3):331-6. doi: 10.1038/ng1748. Epub 2006 ...
- ... 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. Citation on PubMed Romano AA, Allanson JE, Dahlgren ...
- ... Y. Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Hum Mutat. 2010 Mar;31(3):284-94. doi: 10.1002/humu.21187. Citation ...
- ... the Ras family of oncogenes, which also includes three other genes: KRAS, HRAS, and NRAS. These ... found to cause Noonan syndrome. This condition is characterized by mildly unusual facial ...
- ... novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple ... syndrome. Science. 2006 Mar 3;311(5765):1287-90. doi: 10.1126/science. ...
- ... 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 ...
- ... This Health Condition MedlinePlus Genetics provides information about Noonan syndrome More About This Health Condition MedlinePlus Genetics provides ... increase the risk of cancer in people with Noonan syndrome. GTPase NRas GTPase NRas precursor N-ras N- ...
- ... 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 ...
- ... 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 3;311(5765):1287-90. doi: 10.1126/science. ...
- ... 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 ...