{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:34:49Z","timestamp":1760729689342},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4963,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a girl, one of monozygotic (MZ) twins, with endocrine dysfunction with precocious puberty, caf\u00e9\u2010au\u2010lait nevi and poly\u2010ostotic fibrous dysplasia (PFD), McCune\u2010Albright syndrome (MAS). After treatment with cyproterone acetate for 7 years the precocious puberty and excess growth improved but the bone\u2010age still remain advanced. The co\u2010twin had an advanced bone\u2010age and a small cafe\u2010au\u2010lait spot, but showed neither en\u2010docrinopathy nor fibrous dysplasia of bone. On the basis of the findings in these twins, together with those in previously reported fa\u2010milialcasesofMAS, includingtwopairsofMZ twins, a 2\u2010hit mutation hypothesis is proposed: a dominant mutation may be inherited and leads to PFD in offspring as the primary defect of MAS; the second mutation may occur in somatic cells leading to rnosaicism and thus resulting in MAS. This concept explains not only sporadic cases of MAS but also reported familial cases. If we assume that the second mutation occurred in an early somatic division, it would explain the discrepancy of clinical manifestations between MZ twins.<\/jats:p>","DOI":"10.1002\/ajmg.1320410217","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:45:45Z","timestamp":1118547945000},"page":"216-220","source":"Crossref","is-referenced-by-count":18,"title":["Monozygotic twins discordant for the major signs of McCune\u2010Albright syndrome"],"prefix":"10.1002","volume":"41","author":[{"given":"Machiko","family":"Endo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yutaka","family":"Yamada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuo","family":"Matsuura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norio","family":"Niikawa","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","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM193704292161701"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb02224.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80905-X"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(68)90112-5"},{"key":"e_1_2_1_6_1","first-page":"1913","article-title":"McCune\u2010Albright syndrome in one of monozygotic twins","volume":"94","author":"Fukazawa T","year":"1990","journal-title":"J Jpn Pediatr Soc (in Jpn)"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(72)91038-0"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-37-3-587"},{"key":"e_1_2_1_9_1","first-page":"117","volume-title":"Tumors and Tumorous Conditions of the Bone and Joints","author":"Jaffe HL","year":"1964"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00452093"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(77)80898-6"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80906-1"},{"key":"e_1_2_1_13_1","first-page":"743","article-title":"Osteitis fibrosa cystica: the case of a nine year old girl who also exhibits precocious puberty, multiple pigmentation of the skin and hyperthyroidism","volume":"52","author":"McCune DJ","year":"1936","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(75)90446-6"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2574499"},{"key":"e_1_2_1_16_1","first-page":"199","article-title":"Case records of the Massachusetts General Hospital","volume":"292","author":"Scully RE","year":"1975","journal-title":"N Engl J Med"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320410217","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320410217","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T06:13:43Z","timestamp":1698041623000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320410217"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,11]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1991,11]]}},"alternative-id":["10.1002\/ajmg.1320410217"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320410217","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,11]]}}}