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Progressive osseous heteroplasia: diagnosis, treatment, and prognosis

1 Jan 2015

Abstract excerpt

Progressive osseous heteroplasia (POH) is an ultrarare genetic condition of progressive ectopic ossification. Most cases of POH are caused by heterozygous inactivating mutations of GNAS, the gene encoding the alpha subunit of the G-stimulatory protein of adenylyl cyclase. POH is part of a spectrum of related genetic disorders, including Albright hereditary osteodystrophy, pseudohypoparathyroidism, and primary...

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PMID: 25674011
DOI: 10.2147/tacg.s51064

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