{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T04:43:50Z","timestamp":1789447430851,"version":"build-2803163510"},"reference-count":13,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2011,9,9]],"date-time":"2011-09-09T00:00:00Z","timestamp":1315526400000},"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":[[2011,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Madelung deformity, a congenital anomaly of the wrist with subluxation of the ulna head, is not a widely recognized feature of Albright hereditary osteodystrophy. Here, we describe a young female with a bilateral Madelung deformity, mild cognitive disability, some dysmorphic facial features, and a type E\u2010like brachydactyly, in whom we identified a novel and de novo mutation (c.476T&gt;C; p.Val159Ala) in exon 6 of the <jats:italic>GNAS<\/jats:italic> gene. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34218","type":"journal-article","created":{"date-parts":[[2011,9,10]],"date-time":"2011-09-10T02:44:06Z","timestamp":1315622646000},"page":"2566-2570","source":"Crossref","is-referenced-by-count":15,"title":["Madelung deformity in a girl with a novel and de novo mutation in the <i>GNAS<\/i> gene"],"prefix":"10.1002","volume":"155","author":[{"given":"Patrick","family":"Rump","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan D.H.","family":"Jongbloed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Sikkema\u2010Raddatz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Mundlos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Klopocki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rob B.","family":"van der Luijt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,9,9]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.126.6.1611"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhsa.2005.09.001"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.04.003"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0405091101"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.5.695"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-030850"},{"key":"e_1_2_5_8_1","first-page":"226","article-title":"Albright's hereditary poly\u2010osteochondrodystrophy (Pseudo\u2010pseudo\u2010hypoparathyroidism with diabetes, hypertension, arteritis and polyarthrosis)","volume":"14","author":"Goeminne L","year":"1965","journal-title":"Acta Genet Med"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.185.4154.862"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.023"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI6629"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.87.1.8133"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199005173222002"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-70"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.34218","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34218","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T14:32:54Z","timestamp":1697639574000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34218"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9,9]]},"references-count":13,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2011,10]]}},"alternative-id":["10.1002\/ajmg.a.34218"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34218","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,9,9]]}}}