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Results 1 - 7 of 7 for Cardiofaciocutaneous syndrome 4
  1. ... transduction factors. Curr Opin Pediatr. 2011 Aug;23(4):443-51. doi: 10.1097/MOP.0b013e32834881dd. Citation on PubMed
  2. ... M. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat. 2009 Apr;30(4):695-702. doi: 10.1002/humu.20955. Citation ...
  3. ... the KRAS gene are an uncommon cause of cardiofaciocutaneous syndrome, accounting for less than 5 percent of cases. ... leading to the varied signs and symptoms of cardiofaciocutaneous syndrome. More About This Health Condition MedlinePlus Genetics provides ...
  4. ... MAP2K1 gene have been identified in people with cardiofaciocutaneous syndrome. This condition affects many parts of the body, ... hair (-cutaneous).The MAP2K1 gene mutations that cause cardiofaciocutaneous syndrome are germline mutations, which means that they are ...
  5. ... MAP2K2 gene have been identified in people with cardiofaciocutaneous syndrome. Most of these mutations change single protein building ... and tissues, resulting in the characteristic features of cardiofaciocutaneous syndrome. More About This Health Condition dual specificity mitogen- ...
  6. ... In addition to Noonan syndrome, the RASopathies include cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1, Legius syndrome, and ...
  7. ... with multiple lentigines, the RASopathies include Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1, and Legius syndrome. ...