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Progressive osseous heteroplasia: diagnosis, treatment, and prognosis
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 o...
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| Vydáno v: | Appl Clin Genet |
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| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Dove Medical Press
2015
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4321643/ https://ncbi.nlm.nih.gov/pubmed/25674011 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S51064 |
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