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Results 1 - 6 of 6 for Noonan syndrome 11
  1. ... Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Hum Mutat. 2015 Nov;36(11):1080-7. doi: 10.1002/humu.22834. Epub ...
  2. ... novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines. Am J Med Genet A. 2015 Feb;167A(2):407-11. doi: 10.1002/ajmg.a.36842. Epub 2014 ...
  3. ... Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G. The cardiofaciocutaneous syndrome. J Med Genet. 2006 Nov;43(11):833-42. doi: 10.1136/jmg.2006.042796. ...
  4. ... in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). Am J Med Genet A. 2003 May ... mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet. 2005 Dec;77(6): ...
  5. ... other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome. In affected infants, it can be difficult to ... These individuals may actually have CFC syndrome or Noonan syndrome, which are caused by variants in related genes. ...
  6. ... 25 percent of people with another disorder called Noonan syndrome have factor XI deficiency. F11 Severe factor XI ... does not run in families. F11 deficiency Factor ... Genetic Testing Registry: Hereditary factor ...