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Results 1 - 8 of 8 for Noonan syndrome 6
  1. Noonan syndrome 
    ... Testing Registry: Noonan syndrome 5 Genetic Testing Registry: Noonan syndrome 6 Genetic Testing Registry: Noonan syndrome 7 Genetic Testing ... NOONAN SYNDROME 8; NS8 NOONAN SYNDROME 7; NS7 NOONAN SYNDROME 6; NS6 NOONAN SYNDROME 9; NS9 NOONAN SYNDROME 10; ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  2. Neurofibromatosis type 1 
    ... mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet. 2005 Dec;77(6):1092-101. doi: 10.1086/498454. Epub 2005 ...
    https://medlineplus.gov/genetics/condition/neurofibromatosis-type-1 - Genetics
  3. Baraitser-Winter syndrome 
    ... hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome? J Med Genet. 1993 May;30(5):425-6. doi: 10.1136/jmg.30.5.425. Citation ...
    https://medlineplus.gov/genetics/condition/baraitser-winter-syndrome - Genetics
  4. Cardiofaciocutaneous syndrome 
    ... 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. Epub 2006 Jul 6. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/.../condition/cardiofaciocutaneous-syndrome - Genetics
  5. Costello syndrome 
    ... 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. ...
    https://medlineplus.gov/genetics/condition/costello-syndrome - Genetics
  6. Critical congenital heart disease 
    ... or structure of particular chromosomes. Other conditions, including Noonan syndrome and Alagille syndrome, result from mutations in single ... 2, AUTOSOMAL; HTX2 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6; CHTD6 HYPOPLASTIC LEFT HEART SYNDROME 2; HLHS2 PubMed Fahed AC, Gelb BD, Seidman ...
    https://medlineplus.gov/.../critical-congenital-heart-disease - Genetics
  7. Cherubism 
    ... growths have been reported in rare cases of Noonan syndrome (a developmental disorder characterized by unusual facial characteristics, ... Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case ... cherubism disease. Cell. 2011 Dec 9;147(6):1340-54. doi: 10.1016/j.cell.2011. ...
    https://medlineplus.gov/genetics/condition/cherubism - Genetics
  8. Factor XI deficiency 
    ... 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 ... Duga S, Salomon O. Congenital factor XI deficiency: an update. Semin Thromb Hemost. 2013 Sep;39(6):621-31. doi: 10.1055/s-0033-1353420. ...
    https://medlineplus.gov/genetics/condition/factor-xi-deficiency - Genetics