Article
A report of three patients with MMP2 associated hereditary osteolysis.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2012
Temtamy S A, Ismail S, Aglan M S, Ashour A M, Hosny L A, El-Badry T H, Aboul-Ezz E H A, Amr K, Fateen E, Maguire T, Ungerer K, Zankl A
Abstract excerpt
Osteolysis syndromes are rare hereditary disorders characterized by destruction and resorption of affected bones. The current study adds three new patients from two unrelated consanguineous families with a severe form of inherited osteolysis. Clinical examination, radiological, biochemical, ultrastructural and molecular studies were conducted. Clinical and radiological studies suggested the diagnosis of...
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