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  • A condition caused by loss of function mutation(s) in the paternal allele of the GNAS gene, encoding guanine nucleotide-binding protein G(s) subunit alpha isoforms short. This condition is characterized by dermal ossification beginning in infancy, followed by increasing and extensive heterotopic bone formation in deep muscle and fascia. Other features of Albright hereditary osteodystrophy and hormone resistance are absent.
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