{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T09:42:44Z","timestamp":1697103764467},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,9,15]],"date-time":"2017-09-15T00:00:00Z","timestamp":1505433600000},"content-version":"vor","delay-in-days":18673,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Australasian Annals of Medicine"],"published-print":{"date-parts":[[1966,8]]},"abstract":"<jats:title>SUMMARY<\/jats:title><jats:p>A family is reported, in which four of the six siblings are affected by a nephropathy and two of these siblings are deaf. This fulfils the criteria for a diagnosis of Alport's syndrome. The renal lesion in this family appears to be indistinguishable from chronic glomerulonephritis, and the clinical manifestation of this nephropathy was as bouts of h\u00e6maturia since childhood. The two affected males were more severely affected than the females, the eldest male having died at the age of 25 years from chronic renal failure. The more unusual manifestations of this syndrome\u2014namely, the ocular and mental changes or the amino aciduria\u2014were not present in this family.<\/jats:p>","DOI":"10.1111\/imj.1966.15.3.227","type":"journal-article","created":{"date-parts":[[2017,9,15]],"date-time":"2017-09-15T07:50:23Z","timestamp":1505461823000},"page":"227-235","source":"Crossref","is-referenced-by-count":3,"title":["A FAMILY WITH ALPORT'S SYNDROME OF HEREDITARY NEPHRITIS AND DEAFNESS"],"prefix":"10.1111","volume":"15","author":[{"given":"TREVOR J.","family":"WOOD","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. W.","family":"KNIGHT","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,9,15]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.3454.504"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/bjs.18003614316"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1542\/peds.35.6.967","article-title":"Hereditary Renal Dysfunction and Deafness","volume":"35","author":"CASSADY G.","year":"1965","journal-title":"Pediatrics"},{"key":"e_1_2_1_5_1","first-page":"1231","article-title":"Case 43511, Case Records of the Massachusetts General Hospital","volume":"257","author":"CASTLEMAN B.","year":"1957","journal-title":"New Engl. J. Med."},{"key":"e_1_2_1_6_1","first-page":"379","article-title":"A Genetic Study of Hereditary Renal Dysfunction with Associated Nerve Deafness","volume":"13","author":"COHEN M. M.","year":"1961","journal-title":"Amer. J. hum. Genet."},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1962.03050200033015"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196506172722401"},{"key":"e_1_2_1_9_1","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1542\/peds.20.2.241","article-title":"Hereditary Renal Disease Associated with Nerve Deafness and Ocular Lesions","volume":"20","author":"GOLDBLOOM R. B.","year":"1957","journal-title":"Pediatrics"},{"key":"e_1_2_1_10_1","first-page":"333","article-title":"Hereditary Chronic Kidney Diseasa : An Alternative to Partial Sex\u2010linkage in the Utah Kindred","volume":"11","author":"GRAHAM J. B.","year":"1959","journal-title":"Amer. J. hum. Genet."},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(50)90636-2"},{"key":"e_1_2_1_12_1","first-page":"1075","article-title":"Hyperprolin\u00e6mia and Hereditary Nephritis","volume":"2","author":"KOPELMAN H.","journal-title":"Lancet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-62-6-1279"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0954-6820.1963.tb07893.x"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.1951.03810080059006"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.1958.00260220049005"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196207122670201"},{"key":"e_1_2_1_18_1","first-page":"89","article-title":"Abnormal Segregation in Hereditary Renal Disease with Deafness","volume":"13","author":"SHAW R. F.","year":"1961","journal-title":"Amer. J. hum. Genet."},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.1956.00250230121013"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM195606142542404"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(60)90834-5"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(61)90107-3"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(61)90899-6"}],"container-title":["Australasian Annals of Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fimj.1966.15.3.227","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/imj.1966.15.3.227","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T10:46:32Z","timestamp":1697021192000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/imj.1966.15.3.227"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1966,8]]},"references-count":22,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1966,8]]}},"alternative-id":["10.1111\/imj.1966.15.3.227"],"URL":"https:\/\/doi.org\/10.1111\/imj.1966.15.3.227","archive":["Portico"],"relation":{},"ISSN":["0571-9283"],"issn-type":[{"value":"0571-9283","type":"print"}],"subject":[],"published":{"date-parts":[[1966,8]]}}}