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Results 1 - 10 of 12 for Noonan syndrome 11
  1. ... time. BPTP3 protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1) protein-tyrosine phosphatase 2C PTN11_HUMAN PTP- ... Baumann C, Verloes A, Cave H; French Collaborative Noonan Study Group. PTPN11 ... J Med Genet. 2004 Nov;41(11):e117. doi: 10.1136/jmg.2004.021451. No ...
  2. ... Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Hum Mutat. 2015 Nov;36(11):1080-7. doi: 10.1002/humu.22834. Epub ...
  3. ... 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 ...
  4. ... 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 ...
  5. ... 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. ...
  6. ... Martinez AF, Kruszka P, Muenke M. Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature. Am J Med Genet A. 2015 Nov;167A(11):2657-63. doi: 10.1002/ajmg.a.37259. ...
  7. ... Rev Oncol Hematol. 2015 Jul;95(1):1-11. doi: 10.1016/j.critrevonc.2015.02.004. Epub ... Tartaglia M. Noonan Syndrome with Multiple Lentigines. 2007 Nov 30 [updated 2022 ...
  8. ... 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): ...
  9. ... 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. ...
  10. ... also known as Verma-Naumoff syndrome or Saldino-Noonan syndrome. These disorders have signs and symptoms similar to ... cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 2009 May;84(5):706-11. doi: 10.1016/j.ajhg.2009.04.016. ...
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