{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T04:43:18Z","timestamp":1789447398518,"version":"build-2803163510"},"reference-count":8,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2001,1,1]],"date-time":"2001-01-01T00:00:00Z","timestamp":978307200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2001,1,1]],"date-time":"2001-01-01T00:00:00Z","timestamp":978307200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2001]]},"abstract":"<jats:p>Albright\u2019s hereditary osteodystrophy (AHO) is a rare inherited disease characterized by skeletal abnormalities, short stature, and, in some cases, resistance to parathyroid hormone, resulting in pseudohypoparathyroidism (PHP). Heterozygous inactivating mutations of the &lt;i&gt;GNAS1&lt;\/i&gt; gene are responsible for reduced activity of the alpha subunit of the Gs protein (G&lt;sub&gt;S\u03b1&lt;\/sub&gt;), a protein that mediates hormone signal transduction across cell membranes. G&lt;sub&gt;s\u03b1&lt;\/sub&gt; is also known to have oncogenic potentials, leading to the development of human pituitary tumors and Leydig cell tumors. Here, we report the 1st case, a 3.5-year-old girl, with classic AHO phenotype and PHP type 1A associated with a cerebellar pilocytic astrocytoma. Coincidence or genetic relationships of both diseases are discussed according to molecular findings and current literature.<\/jats:p>","DOI":"10.1159\/000049995","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T10:10:37Z","timestamp":1050401437000},"page":"196-200","source":"Crossref","is-referenced-by-count":3,"title":["Albright\u2019s Hereditary Osteodystrophy Associated with Cerebellar Pilocytic Astrocytoma: Coincidence or Genetic Relationship?"],"prefix":"10.1159","volume":"55","author":[{"given":"Stephan B.","family":"Sobottka","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Huebner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Haase","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wiebke","family":"Ahrens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edgar","family":"Rupprecht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans K.","family":"Schackert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Schackert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2001,10,5]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1097\/00060793-199904000-00006"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.6.2074"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1210\/jc.76.6.1560"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.8.4268"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.1998.00572.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.17.10038"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/0968-0004(89)90046-7"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/340692a0"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/49995","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/49995","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:19:11Z","timestamp":1745468351000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000049995"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001]]},"references-count":8,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2001,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000049995","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001]]}}}