Progressive osseous heteroplasia: diagnosis, treatment, and prognosis
Robert J Pignolo,1–3 Girish Ramaswamy,2,3 John T Fong,2,3 Eileen M Shore,2–4 Frederick S Kaplan1–3 1Department of Medicine, 2Department of Orthopaedic Surgery, 3The Center for Research in FOP and Related Disorders, 4Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA Abstract: 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 par...
Source: Application of Clinical Genetics - January 30, 2015 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Progressive osseous heteroplasia
Pignolo RJ, Ramaswamy G, Fong JT, Shore EM, Kaplan FS (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - January 30, 2015 Category: Genetics & Stem Cells Source Type: research
