{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T04:43:16Z","timestamp":1789447396156,"version":"build-2803163510"},"reference-count":38,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2000,11,1]],"date-time":"2000-11-01T00:00:00Z","timestamp":973036800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2000,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Progressive osseous heteroplasia (POH) is a rare disorder characterized by dermal ossification beginning in infancy followed by increasing and extensive bone formation in deep muscle and fascia. We describe two unrelated girls with typical clinical, radiographic, and histological features of POH who also have findings of another uncommon heritable disorder, Albright hereditary osteodystrophy (AHO). One patient has mild brachydactyly but no endocrinopathy, whereas the other manifests brachydactyly, obesity, and target tissue resistance to thyrotropin and parathyroid hormone (PTH). Levels of the \u03b1-subunit of the G protein (Gs\u03b1) were reduced in erythrocyte membranes from both girls and a nonsense mutation (Q12X) in exon 1 of the GNAS1 gene was identified in genomic DNA from the mildly affected patient. Features of POH and AHO in two individuals suggest that these conditions share a similar molecular basis and pathogenesis and that isolated severe extraskeletal ossification may be another manifestation of Gs\u03b1 deficiency.<\/jats:p>","DOI":"10.1359\/jbmr.2000.15.11.2074","type":"journal-article","created":{"date-parts":[[2006,4,27]],"date-time":"2006-04-27T02:09:39Z","timestamp":1146103779000},"page":"2074-2083","source":"Crossref","is-referenced-by-count":105,"title":["Deficiency of the \u03b1-Subunit of the Stimulatory G Protein and Severe Extraskeletal Ossification"],"prefix":"10.1093","volume":"15","author":[{"given":"Mark C.","family":"Eddy","sequence":"first","affiliation":[{"name":"Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, Missouri, U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne M.","family":"Jan de beur","sequence":"additional","affiliation":[{"name":"Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne M.","family":"Yandow","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, University of Utah School of Medicine and Shriners Hospital for Children, Salt Lake City, Utah, U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William H.","family":"McAlister","sequence":"additional","affiliation":[{"name":"Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, Missouri, U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eileen M.","family":"Shore","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, U.S.A."},{"name":"Department of Orthopedic Surgery, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederick S.","family":"Kaplan","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, U.S.A."},{"name":"Department of Orthopedic Surgery, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael P.","family":"Whyte","sequence":"additional","affiliation":[{"name":"Departments of Medicine, Pediatrics, and Genetics, Division of Bone and Mineral Diseases, Washington University School of Medicine, St. Louis, Missouri, U.S.A."},{"name":"Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, Missouri, U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A.","family":"Levine","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, U.S.A."},{"name":"Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2009,12,2]]},"reference":[{"key":"2024020714083962200_bib1","first-page":"198","volume-title":"Clinical Pediatric Dermatology: A Textbook of Skin Disorders of Childhood and Adolescence","author":"Hurwitz","year":"1993","edition":"2nd Ed."},{"key":"2024020714083962200_bib2","first-page":"427","volume-title":"Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism","author":"Whyte","year":"1999","edition":"4th Ed."},{"key":"2024020714083962200_bib3","doi-asserted-by":"crossref","first-page":"425","DOI":"10.2106\/00004623-199403000-00013","article-title":"Progressive osseous heteroplasia: A distinct developmental disorder of heterotopic ossification","volume":"76A","author":"Kaplan","year":"1994","journal-title":"J Bone Joint Surg Am"},{"key":"2024020714083962200_bib4","doi-asserted-by":"crossref","first-page":"907","DOI":"10.2106\/00004623-199406000-00016","article-title":"Hemimelic progressive osseous heteroplasia. 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