Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Fibrodysplasia ossificans progressiva is an autosomal dominant disorder characterized by extraskeletal, predominantly endochondreal, bone formation. The patients are progressivly disabled because of skeletal malformations.
The prevalence is 1 per 1-2,000,000. Most cases occur sporadically as severe bode deformations reduce the chances to reproduce.[Error: Macro 'ref' doesn't exist]
Inherited human diseases of heterotopic bone formation
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Familial tumoral calcinosis
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Fibrodysplasia ossificans progressiva
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ACVR1
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Progressive osseous heteroplasia
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