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Results 1 - 9 of 9 for Noonan syndrome 8
  1. ... Testing Registry: Noonan syndrome 7 Genetic Testing Registry: Noonan syndrome 8 Genetic Testing Registry: Noonan syndrome 9 Noonan syndrome ... NOONAN SYNDROME 3; NS3 NOONAN SYNDROME 5; NS5 NOONAN SYNDROME 8; NS8 NOONAN SYNDROME 7; NS7 NOONAN SYNDROME 6; ...
  2. ... in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). Am J Med Genet A. 2003 May 15;119A(1):1-8. doi: 10.1002/ajmg.a.20023. Citation on ...
  3. ... Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet. 2007 Aug;39(8):957-9. doi: 10.1038/ng2063. Epub 2007 ...
  4. Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome) is a condition that affects many areas of the body. As the condition name suggests, ...
  5. ... J Med Genet A. 2007 Apr 15;143A(8):799-807. doi: 10.1002/ajmg.a.31658. Citation on PubMed ... and Noonan syndromes due to mutations in the RAS/MAPK signalling ...
  6. ... 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. ...
  7. ... or structure of particular chromosomes. Other conditions, including Noonan syndrome and Alagille syndrome, result from mutations in single ...
  8. ... growths have been reported in rare cases of Noonan syndrome (a developmental disorder characterized by unusual facial characteristics, ...
  9. ... 25 percent of people with another disorder called Noonan syndrome have factor XI deficiency. F11 Severe factor XI ... antecedent deficiency PTA deficiency Rosenthal factor deficiency Rosenthal syndrome Rosenthal's disease ... Semin Thromb Hemost. 2013 Sep;39(6):621-31. doi: 10.1055/s-0033-1353420. Epub 2013 Aug 8. Citation on PubMed Duga S, Salomon O. Factor ...