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Results 1 - 10 of 10 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. Skin Pigmentation Disorders (National Library of Medicine)  
    Pigmentation means coloring. Skin pigmentation disorders affect the color of your skin. Your skin gets its color from a pigment called melanin. Special cells in the ...
    https://medlineplus.gov/skinpigmentationdisorders.html - Health Topics
  6. Neurofibromatosis From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Neurofibromatosis/Start Here ... Neurofibromatosis ... National Institute of Neurological Disorders and Stroke ... Neurofibromatosis is not a single medical disorder. ...
    https://www.ninds.nih.gov/.../disorders/neurofibromatosis - External Health Links
  7. 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
  8. 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
  9. 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
  10. Expert reviewers 
    ... College Cornell University New York, New York Eric Legius Catholic University Leuven Leuven, Belgium Leslie Leinwand University ... Baltimore, Maryland Junko Oshima International Registry of Werner Syndrome University of Washington Seattle, Washington Harry Ostrer Albert ...
    https://medlineplus.gov/about/general/genetics/expertreviewers -