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The primary defect lies in the insulin receptor and involves biallelic mutations that lead to a loss of function through various postulated defects. We present a 9\u2010year\u2010old female patient with RMS complicated by multiple cerebral infarcts, in whom genetic analysis revealed a novel insulin receptor mutation.<\/jats:p>","DOI":"10.1111\/j.1365-4632.2012.05665.x","type":"journal-article","created":{"date-parts":[[2013,1,25]],"date-time":"2013-01-25T03:36:02Z","timestamp":1359084962000},"page":"182-185","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Rabson\u2013Mendenhall syndrome with recurrent cerebral infarcts caused by a novel <i>INSR<\/i> mutation"],"prefix":"10.1111","volume":"52","author":[{"given":"Saritha","family":"Mohanan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laxmisha","family":"Chandrashekar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert K.","family":"Semple","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Devinder M.","family":"Thappa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Narayanan","family":"Parameswaran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vir S.","family":"Negi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sivaranjini","family":"Ramassamy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,1,24]]},"reference":[{"key":"e_1_2_4_2_2","doi-asserted-by":"publisher","DOI":"10.1210\/er.2010-0020"},{"key":"e_1_2_4_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10266-009-0106-7"},{"key":"e_1_2_4_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-011-2066-z"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.2002.05150.x"},{"key":"e_1_2_4_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12462293"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2010.03810.x"},{"key":"e_1_2_4_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.9.1437"},{"key":"e_1_2_4_9_2","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199707000-00012"},{"key":"e_1_2_4_10_2","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.43.3.357"},{"key":"e_1_2_4_11_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.84.8.2623"},{"key":"e_1_2_4_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.12.1465"},{"key":"e_1_2_4_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-010-1879-5"},{"key":"e_1_2_4_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.02.013"},{"key":"e_1_2_4_15_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI114693"},{"key":"e_1_2_4_16_2","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1111\/j.1365-2265.2006.02678.x","article-title":"Functional characterization of a novel insulin receptor mutation contributing to Rabson\u2013Mendenhall syndrome","volume":"661","author":"Tuthill A","year":"2007","journal-title":"Clin Endocrinol"},{"key":"e_1_2_4_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00401062"},{"key":"e_1_2_4_18_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1997.7181"},{"key":"e_1_2_4_19_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-031952"}],"container-title":["International Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-4632.2012.05665.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-4632.2012.05665.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T05:26:29Z","timestamp":1698643589000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-4632.2012.05665.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,24]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,2]]}},"alternative-id":["10.1111\/j.1365-4632.2012.05665.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-4632.2012.05665.x","archive":["Portico"],"relation":{},"ISSN":["0011-9059","1365-4632"],"issn-type":[{"value":"0011-9059","type":"print"},{"value":"1365-4632","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,1,24]]},"assertion":[{"value":"2013-01-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}