{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T15:40:04Z","timestamp":1748792404342,"version":"3.41.0"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2025,2,6]],"date-time":"2025-02-06T00:00:00Z","timestamp":1738800000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,2,6]],"date-time":"2025-02-06T00:00:00Z","timestamp":1738800000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["CEN Case Rep"],"DOI":"10.1007\/s13730-025-00972-9","type":"journal-article","created":{"date-parts":[[2025,2,6]],"date-time":"2025-02-06T14:37:58Z","timestamp":1738852678000},"page":"396-401","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Case of maternal uniparental isodisomy with autosomal recessive Alport syndrome combined with congenital myasthenia and Oguchi disease"],"prefix":"10.1007","volume":"14","author":[{"given":"Misaki","family":"Akiyama","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiko","family":"Matsubara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Terashima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuichi","family":"Abe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kinji","family":"Ohno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3528-6961","authenticated-orcid":false,"given":"Koichi","family":"Kamei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,2,6]]},"reference":[{"key":"972_CR1","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1053\/j.ajkd.2020.03.026","volume":"77","author":"CE Kashtan","year":"2021","unstructured":"Kashtan CE. Alport syndrome: achieving early diagnosis and treatment. Am J Kidney Dis. 2021;77:272\u20139.","journal-title":"Am J Kidney Dis"},{"key":"972_CR2","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1007\/s10157-018-1629-4","volume":"23","author":"K Nozu","year":"2019","unstructured":"Nozu K, Nakanishi K, Abe Y, et al. A review of clinical characteristics and genetic backgrounds in Alport syndrome. Clin Exp Nephrol. 2019;23:158\u201368.","journal-title":"Clin Exp Nephrol"},{"key":"972_CR3","doi-asserted-by":"publisher","first-page":"3730","DOI":"10.3390\/ijms24043730","volume":"24","author":"K Ohno","year":"2023","unstructured":"Ohno K, Ohkawara B, Shen XM, et al. Clinical and pathologic features of congenital myasthenic syndromes caused by 35 genes-a comprehensive review. Int J Mol Sci. 2023;24:3730.","journal-title":"Int J Mol Sci"},{"key":"972_CR4","doi-asserted-by":"publisher","first-page":"137","DOI":"10.18502\/jovr.v16i1.8262","volume":"16","author":"A Mirshahi","year":"2021","unstructured":"Mirshahi A, Hassanpoor N, Khojasteh H, et al. Oguchi disease associated with keratoconus. J Ophthalmic Vis Res. 2021;16:137\u20139.","journal-title":"J Ophthalmic Vis Res"},{"key":"972_CR5","doi-asserted-by":"publisher","first-page":"14006","DOI":"10.1038\/hgv.2014.6","volume":"1","author":"XJ Fu","year":"2014","unstructured":"Fu XJ, Morisada N, Hashimoto F, et al. A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy. Hum Genome Var. 2014;1:14006.","journal-title":"Hum Genome Var"},{"key":"972_CR6","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1007\/s13730-019-00429-w","volume":"9","author":"Y Izumi","year":"2020","unstructured":"Izumi Y, Hamaguchi A, Miura R, et al. Autosomal dominant Alport syndrome due to a COL4A4 mutation with an additional ESPN variant detected by whole-exome analysis. CEN Case Rep. 2020;9:59\u201364.","journal-title":"CEN Case Rep"},{"key":"972_CR7","doi-asserted-by":"publisher","first-page":"1441","DOI":"10.2215\/CJN.01000116","volume":"11","author":"N Kamiyoshi","year":"2016","unstructured":"Kamiyoshi N, Nozu K, Fu XJ, et al. Genetic, clinical, and pathologic backgrounds of patients with autosomal dominant alport syndrome. Clin J Am Soc Nephrol. 2016;11:1441\u20139.","journal-title":"Clin J Am Soc Nephrol"},{"key":"972_CR8","doi-asserted-by":"publisher","first-page":"1535","DOI":"10.1007\/s00467-014-2797-4","volume":"29","author":"M Oka","year":"2014","unstructured":"Oka M, Nozu K, Kaito H, et al. Natural history of genetically proven autosomal recessive Alport syndrome. Pediatr Nephrol. 2014;29:1535\u201344.","journal-title":"Pediatr Nephrol"},{"key":"972_CR9","doi-asserted-by":"publisher","first-page":"1945","DOI":"10.1681\/ASN.2012100985","volume":"24","author":"H Storey","year":"2013","unstructured":"Storey H, Savige J, Sivakumar V, Abbs S, Flinter FA. COL4A3\/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. J Am Soc Nephrol. 2013;24:1945\u201354.","journal-title":"J Am Soc Nephrol"}],"container-title":["CEN Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13730-025-00972-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13730-025-00972-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13730-025-00972-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T15:01:39Z","timestamp":1748790099000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13730-025-00972-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,6]]},"references-count":9,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2025,6]]}},"alternative-id":["972"],"URL":"https:\/\/doi.org\/10.1007\/s13730-025-00972-9","relation":{},"ISSN":["2192-4449"],"issn-type":[{"type":"electronic","value":"2192-4449"}],"subject":[],"published":{"date-parts":[[2025,2,6]]},"assertion":[{"value":"1 September 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 January 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 February 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Koichi Kamei has received research funding from the Public Foundation of Vaccination Research Center and the Taiju Life Social Welfare Foundation. The other authors have declared no competing interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This article does not describe any studies with human participants or animals performed by any of the authors.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Human and animal rights"}},{"value":"Informed consent was obtained from the patient and her parents.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}]}}