{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T21:11:47Z","timestamp":1774645907245,"version":"3.50.1"},"reference-count":44,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,5,16]],"date-time":"2005-05-16T00:00:00Z","timestamp":1116201600000},"content-version":"vor","delay-in-days":3577,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,7,31]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Albright hereditary osteodystrophy (AHO) is a condition with characteristic physical findings (short stature, obesity, round face, brachydactyly) but variable biochemical changes (pseudohypoparathyroidism, pseudopseudohypoparathyroidism). Most patients with AHO have decreased activity of the guanine nucleotide\u2010binding protein (G<jats:sub>s<\/jats:sub> protein) that stimulates adenylyl cyclase. The gene encoding the \u03b1 subunit of the G<jats:sub>s<\/jats:sub> protein (GNAS1) has been mapped to the long arm of chromosome 20. We describe 4 unrelated individuals with apparent AHO, associated with small terminal deletions of chromosome 2. All 4 patients had normal serum calcium levels consistent with pseudopseudohypoparathyroidism.<\/jats:p><jats:p>Del(2)(q37) is the first consistent karyotypic abnormality that has been documented in AHO [Phelan et al., 1993: Am J Hum Genet 53:484]. The finding of the same small terminal deletion in 4 unrelated individuals with a similar phenotype suggests that a gene locus in the 2q37 region is important in the pathogenesis of Albright syndrome. The association of Albright syndrome and the GNAS1 locus on chromosome 20 is well documented. The observation of a second potential disease locus on chromosome 2 may help explain the heterogeneity observed in this disorder. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320580102","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:04:23Z","timestamp":1118513063000},"page":"1-7","source":"Crossref","is-referenced-by-count":80,"title":["Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals"],"prefix":"10.1002","volume":"58","author":[{"suffix":"Ph.D.","given":"Mary C.","family":"Phelan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. 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