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Results 1 - 8 of 8 for lower Wood syndrome
  1. ... 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 ...
  2. ... 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- ...
  3. ... 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 ...
  4. ... 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; ...
  5. ... 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 ...
  6. ... 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 ...
  7. ... 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: ...
  8. ... of the butterfly-shaped thyroid gland in the lower neck. Hypothyroidism can cause many symptoms, including weight ... article on PubMed Central Kelberman D, Turton JP, Woods KS, Mehta A, Al-Khawari M, Greening J, ...