{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T00:00:49Z","timestamp":1697846449398},"reference-count":33,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7277,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Oligomenorrhea was the reason for consultation in three individuals (two sisters and one unrelated woman) with the pseudo\u2010pseudohypoparathyroidism (PPHP) variant of Albright's hereditary osteodystrophy (AHO). All had short stature, Ullrich\u2010Turner\u2010like signs, acral anomalies typical of AHO\/brachydactyly E, and hypogonadism. One of the three individuals also had reduced erythrocyte N<jats:sup>s<\/jats:sup> (a membrane nucleotide regulatory protein that is required for functional coupling of stimulatory hormone receptors and catalytic adenylate cyclase) activity as described in the pseudohypoparathyroidism variant of AHO. The differential diagnosis of young women with the PPHP phenotype is discussed with special reference to Ullrich\u2010Turner syndrome, brachydactyly E, the \u201cresistant ovary\u201d syndrome, and acrodysostosis.<\/jats:p>","DOI":"10.1002\/ajmg.1320210317","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:59:15Z","timestamp":1118519955000},"page":"551-568","source":"Crossref","is-referenced-by-count":4,"title":["Differential diagnosis in young women with oligomenorrhea and the pseudopseudohypoparathyroidism variant of Albright's hereditary osteodystrophy"],"prefix":"10.1002","volume":"21","author":[{"given":"Fahed","family":"Halal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cornelis","family":"Van Dop","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julien","family":"Lord","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"922","article-title":"Pseudohypoparathyroidism: An example of \u201cSeabright\u2010Bantam\u201d syndrome","volume":"30","author":"Albright F","year":"1942","journal-title":"Endocrinology"},{"key":"e_1_2_1_3_1","first-page":"337","article-title":"Pseudo\u2010pseudohypoparathyroidism","volume":"65","author":"Albright F","year":"1952","journal-title":"Trans Assoc Am Phys"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-53-3-636"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150312"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0072-968X(78)80013-8"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197311152892003"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198007313030501"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.78.5.3098"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-55-1-113"},{"key":"e_1_2_1_11_1","first-page":"227","article-title":"Pseudohypoparathyroidism: Mutation affecting adenylate cyclase","volume":"8","author":"Farfel Z","year":"1982","journal-title":"Mineral Electrolyte Metab"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.1.36"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110104"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(70)92053-2"},{"key":"e_1_2_1_15_1","first-page":"153","article-title":"Brachydactylie h\u00e9r\u00e9ditaire de type E. 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