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Results 1 - 7 of 7 for Legius syndrome
  1. Legius syndrome 
    Legius syndrome is a condition characterized by changes in skin coloring (pigmentation). Almost all affected individuals have multiple ... some affected individuals.Other signs and symptoms of Legius syndrome may include an abnormally large head (macrocephaly) and ...
    https://medlineplus.gov/genetics/condition/legius-syndrome - Genetics
  2. 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
  3. Noonan syndrome 
    ... include cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1, Legius syndrome, and Noonan syndrome with multiple lentigines. Noonan syndrome ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  4. Noonan syndrome with multiple lentigines 
    ... cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1, and Legius syndrome. Noonan syndrome with multiple lentigines is thought to ...
    https://medlineplus.gov/.../noonan-syndrome-with-multiple-lentigines - Genetics
  5. 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
  6. Partington syndrome 
    ... Frints SG, Froyen G, Marynen P, Willekens D, Legius E, Fryns JP. Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome. Am J Med Genet. 2002 Nov 1;112( ...
    https://medlineplus.gov/genetics/condition/partington-syndrome - Genetics
  7. 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