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Results 1 - 10 of 11 for lower Wood syndrome
  1. Snyder-Robinson syndrome 
    ... Norris J, Bova SM, Selicorni A, Weber G, Wood T, Schwartz CE, Mastrangelo M. Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and ...
    https://medlineplus.gov/genetics/condition/snyder-robinson-syndrome - Genetics
  2. Mucopolysaccharidosis type III 
    ... TYPE IIID; MPS3D PubMed Bodamer OA, Giugliani R, Wood T. The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape. Mol Genet Metab. 2014 Sep- ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-iii - Genetics
  3. Ellis-van Creveld syndrome 
    ... with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra ...
    https://medlineplus.gov/.../condition/ellis-van-creveld-syndrome - Genetics
  4. TP63 gene 
    ... and sweat glands. Other characteristic features of AEC syndrome include partial or complete fusion of the upper and lower eyelids (ankyloblepharon filiforme adnatum) and an opening in ...
    https://medlineplus.gov/genetics/gene/tp63 - Genetics
  5. Weyers acrofacial dysostosis 
    ... Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet. 2000 Mar; ...
    https://medlineplus.gov/.../condition/weyers-acrofacial-dysostosis - Genetics
  6. ATRX gene 
    ... PubMed Central Gibbons RJ, Pellagatti A, Garrick D, Wood WG, Malik N, Ayyub ... myelodysplasia syndrome (ATMDS). Nat Genet. 2003 Aug;34(4):446- ...
    https://medlineplus.gov/genetics/gene/atrx - Genetics
  7. Paroxysmal extreme pain disorder 
    ... SG. Intra- and interfamily phenotypic diversity in pain syndromes associated with ... B, Ostman J, Klugbauer N, Wood JN, Gardiner RM, Rees M. SCN9A mutations in ...
    https://medlineplus.gov/.../paroxysmal-extreme-pain-disorder - Genetics
  8. NOTCH1 gene 
    ... within the heart itself, such as the two lower chambers of the heart (the ventricles) or the ... Trevino L, Drummond JA, Muzny DM, Wu Y, Wood LD, Hruban RH, Westra WH, Koch WM, Califano ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  9. Lung cancer 
    ... between 11 and 17 percent; it can be lower or higher depending on the subtype and stage ... 2012 Mar 28. Citation on PubMed Ettinger DS, Wood DE, Aisner DL, Akerley W, Bauman J, Chirieac ...
    https://medlineplus.gov/genetics/condition/lung-cancer - Genetics
  10. Dopa-responsive dystonia 
    ... upward-turning feet (clubfeet) and dystonia in the lower limbs. The dystonia spreads to the upper limbs ... Gerhard A, Polke JM, Hanna MG, Davis MB, Wood NW, Bhatia KP. Autosomal-dominant GTPCH1-deficient DRD: ...
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia - Genetics
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