{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:18:04Z","timestamp":1790471884966,"version":"4.1.0"},"reference-count":23,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1977,6]]},"abstract":"<jats:p>Twenty-one families were selected from the published reports in which the propositus had the triad of juvenile diabetes mellitus, diabetes insipidus, and optic atrophy. The data were consistent with the hypothesis of an autosomal gene which, in the homozygote, causes juvenile diabetes mellitus and one or more of diabetes insipidus, optic atrophy, and nerve deafness. Heterozygotes appear to have an increased probability of developing juvenile diabetes mellitus.<\/jats:p>","DOI":"10.1136\/jmg.14.3.190","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"190-193","source":"Crossref","is-referenced-by-count":84,"title":["Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?"],"prefix":"10.1136","volume":"14","author":[{"given":"F C","family":"Fraser","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Gunn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1977,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/0002-9343(70)90071-9","article-title":"Coexistence of diabetes mellitus and insipidus and optic atrophy in two siblings","volume":"48","author":"Bretz, G.W.; Baghdassarian, A.; Graber, J.D.; Zackerle, B.J.; Norum, R.M.; Blizzard, R.M.","year":"1970","unstructured":"Bretz, G. W., Baghdassarian, A., Graber, J. D., Zackerle, B. J., Norum, R. M., and Blizzard, R. M. (1970). Coexistence of diabetes mellitus and insipidus and optic atrophy in two siblings. 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Bulletin des Sociftgs d'optalmologie de France, 82, 29-40.","journal-title":"Bulletin des Sociftgs d'optalmologie de France"},{"key":"ref_6","first-page":"790","article-title":"Associazione di diabetes mellito, diabetes insipido, atrofia ottica e malformationi della vie urinarie","volume":"24","author":"de Sanctis, C.; Dogliani, P.; Tognolo, A.","year":"1972","unstructured":"de Sanctis, C., Dogliani, P., and Tognolo, A. (1972). Associazione di diabetes mellito, diabetes insipido, atrofia ottica e malformationi della vie urinarie. Minerva Pediatrica, 24, 790-795.","journal-title":"Minerva Pediatrica"},{"key":"ref_7","article-title":"Genetics of Man. Lea and Febiger","author":"Fraser, F.C.; Nora, J.J.","year":"1975","unstructured":"Fraser, F. C., and Nora, J. J. (1975). Genetics of Man. Lea and Febiger, Philadelphia."},{"issue":"4","key":"ref_8","first-page":"428","article-title":"Association de diabete sucr6, polyurodipsie, et troubles sensoriels","volume":"29","author":"Goddon, R.; Longin, B.; Mamelle, J.C.; Gilly, R.; R, Francois","year":"1973","unstructured":"Goddon, R., Longin, B., Mamelle, J. C., Gilly, R., and Francois R. (1973). Association de diabete sucr6, polyurodipsie, et troubles sensoriels. Pediatrie, 29 (4), 428-445.","journal-title":"Pediatrie"},{"key":"ref_9","first-page":"565","article-title":"Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness and diabetes insipidus-a syndrome","volume":"89","author":"Gunn, T.; Bertolussi, R.; Little, J.M.; Andermann, F.; Fraser, F.C.; Belmonte, M.","year":"1976","unstructured":"Gunn, T., Bertolussi, R., Little, J. M., Andermann, F., Fraser, F. C., and Belmonte, M. (1976). Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness and diabetes insipidus-a syndrome. 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G., Fraser, G. R., Matsouki-Gavra, E., and Petrochilos, M. (1970). Association of juvenile diabetes mellitus, primary optic atrophy and perceptive hearing loss in three sibs, with additional idiopathic diabetes mellitus insipidus in one case. Acta Endocrinologica, 65, 95-102.","journal-title":"Acta Endocrinologica"},{"key":"ref_12","first-page":"293","article-title":"Association diabete sucr6, troubles sensorials, diabete insipide chez duex enfants d'une meme fratrie","volume":"6","author":"Jean, R.; Bonnet, H.; Dumas, R.; Morel, G.","year":"1970","unstructured":"Jean, R., Bonnet, H., Dumas, R., and Morel, G. (1970). Association diabete sucr6, troubles sensorials, diabete insipide chez duex enfants d'une meme fratrie. Revue de Pediatrie, 6, 293-299.","journal-title":"Revue de Pediatrie"},{"issue":"2","key":"ref_13","first-page":"127","article-title":"Diabete juvenile et atrophie optique primitive. 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Quarterly Journal of Medicine, 35 (139), 285-405.","journal-title":"Quarterly Journal of Medicine"},{"key":"ref_20","first-page":"243","article-title":"Familiares Vorkommen von Diabetes mellitus, primarer Optionsatrophic und Innenohrschwerhorigkeit","volume":"98","author":"Sauer, H.; Chuden, H.; Gottesburen, H.; Schmitz-Valchenberg, P.; Seitz, D.","year":"1974","unstructured":"Sauer, H., Chuden, H., Gottesburen, H., Schmitz-Valchenberg, P., and Seitz, D. (1974). Familiares Vorkommen von Diabetes mellitus, primarer Optionsatrophic und Innenohrschwerhorigkeit. Deutsche medizinische Wochenschrift, 98, 243-255.","journal-title":"Deutsche medizinische Wochenschrift"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1136\/bjo.56.6.496","article-title":"Familial incidence of juvenile diabetes mellitus, progressive optic atrophy and neurogenic deafness","volume":"56","author":"Stevens, P.R.; MacFadjen, W.A.L.","year":"1972","unstructured":"Stevens, P. R., and MacFadjen, W. A. L. (1972). Familial incidence of juvenile diabetes mellitus, progressive optic atrophy and neurogenic deafness. British Journal of Ophthalmology, 56, 496-500.","journal-title":"British Journal of Ophthalmology"},{"issue":"4","key":"ref_22","first-page":"401","article-title":"Pedigrees with diabetes insipidus, diabetes mellitus and optic atrophy","volume":"9","author":"Sunder, J.H.; Danowski, T.S.; Kenny, F.M.; Khurana, R.C.; Sun, A.; Nolan, S.; Stephen, T.","year":"1972","unstructured":"Sunder, J. H., Danowski, T. S., Kenny, F. M., Khurana, R. C., Sun, A., Nolan, S., and Stephen, T. (1972). Pedigrees with diabetes insipidus, diabetes mellitus and optic atrophy. 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