Article
Perthes' disease and the search for genetic associations: collagen mutations, Gaucher's disease and thrombophilia.
The Journal of bone and joint surgery. British volume - 1 Nov 2008
Kenet G, Ezra E, Wientroub S, Steinberg D M, Rosenberg N, Waldman D, Hayek S
Abstract excerpt
The role of heritable thrombophilic risk factors in the pathogenesis of the Perthes' disease is controversial. The clinical and radiological findings of Perthes' disease may be indistinguishable from those of Gaucher's disease, and the most common Jewish N370S Gaucher mutation is threefold greater in patients with Perthes' disease. Familial osteonecrosis of the femoral head is associated with variant mutations of...
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