Condition: TORG-WINCHESTER SYNDROME
rs121912953 in
MMP2 gene and
TORG-WINCHESTER SYNDROME
PMID 16542393 2006 A novel homozygous MMP2 mutation in a family with Winchester syndrome.
PMID 11431697 2001 Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.
PMID 15691365 2005 Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.