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Results 1 - 7 of 7 for Cardiofaciocutaneous syndrome 1
  1. ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1 PubMed Allanson JE, Anneren G, Aoki Y, ... phenotype. Am J Med Genet A. 2006 Aug 1;140(15):1681-3. doi: ... T, Neri G. The cardiofaciocutaneous syndrome. J Med Genet. 2006 Nov;43(11):833- ...
  2. ... In addition to Noonan syndrome, the RASopathies include cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1, Legius syndrome, and Noonan syndrome with multiple lentigines. ...
  3. ... with multiple lentigines, the RASopathies include Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1, and Legius syndrome. Noonan syndrome with multiple lentigines ...
  4. The MAP2K1 gene provides instructions for making a protein known as MEK1 protein kinase. This protein is part of a signaling pathway called the RAS/MAPK ...
  5. ... significantly with those of two other genetic conditions, cardiofaciocutaneous ... it probably affects 100 to 1,500 people worldwide. The estimates of Costello syndrome ...
  6. ... 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 ...
  7. ... BRAF gene are the most common cause of cardiofaciocutaneous syndrome. This condition affects many parts of the body, ... and tissues, resulting in the characteristic features of cardiofaciocutaneous syndrome. More About This Health Condition At least one ...