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Results 1 - 10 of 19 for Noonan syndrome 8
  1. Noonan syndrome 
    ... 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; ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  2. RAF1 gene 
    ... Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet. 2007 Aug;39(8):1013-7. doi: 10.1038/ng2078. Epub 2007 Jul 1. Citation on PubMed Romano AA, Allanson JE, Dahlgren J, Gelb ... clinical features, diagnosis, and management guidelines. Pediatrics. 2010 ...
    https://medlineplus.gov/genetics/gene/raf1 - Genetics
  3. Neurofibromatosis type 1 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/neurofibromatosis-type-1 - Genetics
  4. SOS1 gene 
    ... profile of a child with SOS1 mutation in Noonan syndrome. Neurologia (Engl Ed). 2018 Mar;33(2):137-138. doi: 10.1016/j.nrl.2016.01.002. Epub 2016 Mar 8. No abstract available. English, Spanish. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/sos1 - Genetics
  5. Donnai-Barrow syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/donnai-barrow-syndrome - Genetics
  6. LRP2 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/lrp2 - Genetics
  7. Congenital Heart Defects (National Library of Medicine)  
    What are congenital heart defects? Congenital heart defects (CHDs) are problems with the structure of the heart. "Congenital" means that that the problems ...
    https://medlineplus.gov/congenitalheartdefects.html - Health Topics
  8. MAP2K1 gene 
    ... Genes Chromosomes Cancer. 2015 Jun;54(6):361-8. doi: 10.1002/gcc.22247. Epub ... in a patient with Noonan syndrome with multiple lentigines. Am J Med Genet A. ...
    https://medlineplus.gov/genetics/gene/map2k1 - Genetics
  9. Noonan syndrome with multiple lentigines 
    Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome) is a condition that affects many areas of the body. As the condition name suggests, ...
    https://medlineplus.gov/.../noonan-syndrome-with-multiple-lentigines - Genetics
  10. MAP2K2 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/map2k2 - Genetics
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