Progressive osseous heteroplasia is caused by inactivating mutations of the GNAS gene and characterized by intramembranous bone tissue. The skeleton invariably shows deformations too.
Progressive osseous heteroplasia was first described by Kaplan et al. in 1994.[Error: Macro 'ref' doesn't exist]
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.
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