Case of maternal uniparental isodisomy with autosomal recessive Alport syndrome combined with congenital myasthenia and Oguchi disease.
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| Title: | Case of maternal uniparental isodisomy with autosomal recessive Alport syndrome combined with congenital myasthenia and Oguchi disease. |
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| Authors: | Akiyama M; Division of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan.; Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Kanagawa, Japan., Matsubara K; Division of Diversity Research, National Center for Child Health and Development, Tokyo, Japan., Terashima H; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Abe Y; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan., Ohno K; Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Aichi, Japan.; Graduate School of Nutritional Sciences, Nagoya University of Arts and Sciences, Aichi, Japan., Kamei K; Division of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan. kamei-k@ncchd.go.jp. |
| Source: | CEN case reports [CEN Case Rep] 2025 Jun; Vol. 14 (3), pp. 396-401. Date of Electronic Publication: 2025 Feb 06. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Springer Japan Country of Publication: Japan NLM ID: 101636244 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2192-4449 (Electronic) Linking ISSN: 21924449 NLM ISO Abbreviation: CEN Case Rep Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2192-4449 |
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| DOI: | 10.1007/s13730-025-00972-9 |
