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Results 1 - 3 of 3 for Legius syndrome
  1. SPRED1 gene 
    ... MAPK pathway. Mutations in the SPRED1 gene cause Legius syndrome, a condition characterized by multiple café-au-lait ... SPRED1 gene cause the signs and symptoms of Legius syndrome. More About This Health Condition EVH1/Sprouty domain ...
    https://medlineplus.gov/genetics/gene/spred1 - Genetics
  2. SMAD4 gene 
    ... x. Citation on PubMed Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, Drouin E, Westermann CJ, Marchuk DA. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated ...
    https://medlineplus.gov/genetics/gene/smad4 - Genetics
  3. GPC3 gene 
    ... Muyldermans SY, Reekmans G, Delande N, Frints S, Legius E, Fryns JP, Schrander-Stumpel C, Weidle B, Magdalena N, David G. Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the ...
    https://medlineplus.gov/genetics/gene/gpc3 - Genetics