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She had persistent proteinuria; renal biopsy disclosed focal glomerulosclerosis in 1\/3 of glomeruli. Electron microscopic study of skin fibroblast showed dilated and vacuo\u2010lated rough endoplasmic reticulum. To our knowledge essential osteolysis associated with the aforementioned disorders has not been previously reported.<\/jats:p>","DOI":"10.1002\/ajmg.1320410421","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:31:54Z","timestamp":1118550714000},"page":"482-486","source":"Crossref","is-referenced-by-count":19,"title":["Essential osteolysis associated with nephropathy, corneal opacity, and pulmonary stenosis"],"prefix":"10.1002","volume":"41","author":[{"given":"Osamu","family":"Shinohara","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chidori","family":"Kubota","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikio","family":"Kimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shori","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","unstructured":"BealsRK BirdCB: (1975): Carpal and tarsal osteolysis: A case report and review of the literature.J Bone Joint Surg 57A:681\u2013686.","DOI":"10.2106\/00004623-197557050-00020"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1001\/archderm.1975.01630140088012","article-title":"The skin in the Winchester syndrome: Histologic and ultrastructural studies","volume":"111","author":"Cohen AH","year":"1975","journal-title":"Arch Dermatol"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.51.9.717"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)81076-2"},{"key":"e_1_2_1_6_1","first-page":"423","article-title":"Osteolyse essentielle a debut carpien et tarsien","volume":"30","author":"Fryns JP","year":"1982","journal-title":"J G\u00e9n\u00e9t Hum"},{"key":"e_1_2_1_7_1","first-page":"123","article-title":"Carpal and tarsal osteolysis","volume":"23","author":"Fryns JP","year":"1980","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","unstructured":"HardeggerF SimpsonLA SegmuellerG: (1985): The syndrome of idiopathic osteolysis: Classification review and case report.J Bone Joint Surg 67B:89\u201393.","DOI":"10.1302\/0301-620X.67B1.3968152"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80012-0"},{"key":"e_1_2_1_10_1","first-page":"98","article-title":"Essential osteolysis with nephropathy","volume":"24","author":"Macpherson RI","year":"1973","journal-title":"J Can Assoc Radiol"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290425"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1964.03060300025005"},{"key":"e_1_2_1_13_1","doi-asserted-by":"crossref","first-page":"1629","DOI":"10.2106\/00004623-196850080-00010","article-title":"Essential osteolysis with nephropathy: A review of the literature and case report of an unusual syndrome","volume":"50","author":"Torg JS","year":"1968","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(69)80395-1"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02388769"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.126.1.23"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.106.1.121"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320410421","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320410421","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T12:28:43Z","timestamp":1698064123000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320410421"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,12,15]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1991,12,15]]}},"alternative-id":["10.1002\/ajmg.1320410421"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320410421","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,12,15]]}}}