Heterotopic ossification

Loss of function mutation(s) in the paternal allele of the GNAS gene, encoding guanine nucleotide-binding protein G(s) subunit alpha isoforms short resulting in dermal ossification beginning in infancy, followed by increasing and extensive heterotopic bone formation in deep muscle and fascia.

Disease Alternative Name

osteoma cutis
progressive osseous heteroplasia
progressive heterotopic heteroplasia
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