Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.

@article{Zankl2005WinchesterSC,
  title={Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.},
  author={Andreas Zankl and Luisa Bonafė and Valeria Calcaterra and Maja di Rocco and Andrea Superti-Furga},
  journal={Clinical genetics},
  year={2005},
  volume={67 3},
  pages={
          261-6
        }
}
The inherited osteolysis syndromes are a heterogeneous group of skeletal disorders whose classification is still uncertain. Three osteolysis syndromes show autosomal recessive inheritance and multicentric involvement: Torg syndrome (OMIM 259600), Winchester syndrome (OMIM 277950) and Nodulosis-Arthropathy-Osteolysis syndrome (NAO; OMIM 605156). The 2001 Nosology of the International Skeletal Dysplasia Society (Hall CM, Am J Med Genet 2002: 113: 65) classifies NAO as a variant of Torg syndrome… CONTINUE READING
BETA

Similar Papers

Citations

Publications citing this paper.
SHOWING 1-10 OF 33 CITATIONS