{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T05:43:58Z","timestamp":1793339038383,"version":"4.5.0"},"reference-count":54,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2008,6,13]],"date-time":"2008-06-13T00:00:00Z","timestamp":1213315200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Progressive osseous heteroplasia (POH) is a rare, disabling disease of heterotopic ossification (HO) that progresses from skin and subcutaneous tissues into deep skeletal muscle. POH occurs in the absence of multiple developmental features of Albright hereditary osteodystrophy (AHO) or hormone resistance, clinical manifestations that are also associated with\n                    <jats:italic>GNAS<\/jats:italic>\n                    inactivation. However, occasional patients with AHO and pseudohypoparathyroidism 1a\/c (PHP1a\/c; AHO features plus hormone resistance) have also been described who have progressive HO. This study was undertaken to define the diagnostic and mutational spectrum of POH and progressive disorders of HO, and to distinguish them from related disorders in which HO remains confined to the skin and subcutaneous tissues. We reviewed the charts of 111 individuals who had cutaneous and subcutaneous ossification. All patients were assessed for eight characteristics: age of onset of HO, presence and location of HO, depth of HO, type of HO, progression of HO, features of AHO, PTH resistance, and\n                    <jats:italic>GNAS<\/jats:italic>\n                    mutation analysis. We found, based on clinical criteria, that POH and progressive HO syndromes are at the severe end of a phenotypic spectrum of\n                    <jats:italic>GNAS<\/jats:italic>\n                    \u2010inactivating conditions associated with extra\u2010skeletal ossification. While most individuals with superficial or progressive ossification had mutations in\n                    <jats:italic>GNAS<\/jats:italic>\n                    , there were no specific genotype\u2010phenotype correlations that distinguished the more progressive forms of HO (e.g., POH) from the non\u2010progressive forms (osteoma cutis, AHO, and PHP1a\/c). \u00a9 2008 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.32346","type":"journal-article","created":{"date-parts":[[2008,6,13]],"date-time":"2008-06-13T22:25:03Z","timestamp":1213395903000},"page":"1788-1796","source":"Crossref","is-referenced-by-count":129,"title":["Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of\n                    <i>GNAS<\/i>\n                    \u2010based heterotopic 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