{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T09:12:18Z","timestamp":1760865138858},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4481,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two sibs, whose parents are first cousins, had diabetes mellitus with hyperinsulinism, insensitive insulin receptors, and acanthosis nigricans. Both patients had pigmentary retinopathy, secondary cataracts, labyrinthine deafness, mental retardation, and cerebral atrophy. They were disproportionately short with relatively broad hands and feet and slightly coarse face. The young woman had secondary amenorrhea and polycystic ovaries and the boy gynecomastia and hypergonadotrophic hypogonadism. This appears to be the second family with a new autosomal recessive disorder differing from Alstr\u00f6m syndrome by the presence of mental retardation and absence of renal insufficiency. Impaired insulin receptor binding and polycystic ovaries are described as part of this syndrome. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320450526","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:48:59Z","timestamp":1118508539000},"page":"649-653","source":"Crossref","is-referenced-by-count":23,"title":["Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardation"],"prefix":"10.1002","volume":"45","author":[{"given":"R.","family":"Boor","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Herwig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Schrezenmeir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B. F.","family":"Pontz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.","family":"Sch\u00f6nberger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1989.tb08388.x"},{"key":"e_1_2_1_3_1","first-page":"1","article-title":"Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: A specific syndrome (not hitherto described) distinct from the Laurence\u2010Moon\u2010Bardet\u2010Biedl Syndrome: A clinical, endocrinological and genetic examination based on a large pedigree","volume":"34","author":"Alstr\u00f6m CH","year":"1959","journal-title":"Acta Psychiat Neurol Scand"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(76)90529-5"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198010233031704"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.2337\/diab.27.7.701"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI114693"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1989.tb08387.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(86)90078-4"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295533"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1949.tb27297.x"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1982.01030030287011"},{"key":"e_1_2_1_13_1","first-page":"66(A)","article-title":"Insulin receptor characteristics in a hereditary syndrome with diabetes mellitus, acanthosis nigricans, retinopathia pigmentosa, labyrinthine deafness, mental retardation and dysmorphia","volume":"122","author":"Schrezenmeir J","year":"1990","journal-title":"Suppl Acta Endocrinologica"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.68.7.494"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196910302811801"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3283938"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320450526","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320450526","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T08:21:15Z","timestamp":1698308475000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320450526"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,3]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1993,3]]}},"alternative-id":["10.1002\/ajmg.1320450526"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320450526","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,3]]}}}