progressive osseous heteroplasia

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A rare autosomal dominant disorder in which bone forms in the dermis in infancy and subsequently within deep muscle and fascia. It is caused by paternally inherited inactivating mutations of the GNAS1 gene that encodes the α subunit of the Gs stimulatory heterotrimeric G protein. Mutations in this gene can also give rise to Albright hereditary osteodystrophy, pseudohypoparathyroidism Ia, and pseudopseudohypoparathyroidism.

Subjects: Medicine and Health.

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