Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Progressive osseous heteroplasia

Progressive osseous heteroplasia is caused by inactivating mutations of the GNAS gene and characterized by intramembranous bone tissue. The skeleton invariably shows deformations too.

Historical Aspects

Progressive osseous heteroplasia was first described by Kaplan et al. in 1994.[Error: Macro 'ref' doesn't exist]

Clinical Findings

Progressive osseous heteroplasia (POH) presents in early childhood with cutaneous ossifications. With disease progression, subcutaneous and deep connective tissues, including muscle and fascia, is involved.

Systematic

Inherited human diseases of heterotopic bone formation
Familial tumoral calcinosis
Fibrodysplasia ossificans progressiva
Progressive osseous heteroplasia
GNAS
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