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Results 1 - 4 of 4 for Winchester syndrome
  1. MMP14 gene 
    ... the MMP14 gene has been found to cause Winchester syndrome, a rare inherited bone disease that is characterized ... enzyme leads to the signs and symptoms of Winchester syndrome. It is possible that a loss of matrix ...
    https://medlineplus.gov/genetics/gene/mmp14 - Genetics
  2. MMP2 gene 
    ... novel homozygous MMP2 mutation in a family with Winchester syndrome. Clin Genet. 2006 Mar;69(3):271-6. ... Calcaterra V, Di Rocco M, Superti-Furga A. Winchester syndrome caused by a homozygous mutation affecting the active ...
    https://medlineplus.gov/genetics/gene/mmp2 - Genetics
  3. NAGLU gene 
    ... Beesley CE, Jackson M, Young EP, Vellodi A, Winchester BG. Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB). J Inherit Metab Dis. ...
    https://medlineplus.gov/genetics/gene/naglu - Genetics
  4. SGSH gene 
    ... Westermann JC, Gal A, Ullrich K, Hopwood JJ, Winchester B, Braulke T. ... BJ, Wijburg FA. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis. 2008 ...
    https://medlineplus.gov/genetics/gene/sgsh - Genetics