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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.
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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  Data: Case of maternal uniparental isodisomy with autosomal recessive Alport syndrome combined with congenital myasthenia and Oguchi disease.
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  Data: <searchLink fieldCode="AU" term="%22Akiyama+M%22">Akiyama M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Matsubara+K%22">Matsubara K</searchLink>; Division of Diversity Research, National Center for Child Health and Development, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Terashima+H%22">Terashima H</searchLink>; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Abe+Y%22">Abe Y</searchLink>; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Ohno+K%22">Ohno K</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kamei+K%22">Kamei K</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101636244%22">CEN case reports</searchLink> [CEN Case Rep] 2025 Jun; Vol. 14 (3), pp. 396-401. <i>Date of Electronic Publication: </i>2025 Feb 06.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Japan%22">Springer Japan </searchLink><i>Country of Publication: </i>Japan <i>NLM ID: </i>101636244 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2192-4449 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2221924449%22">21924449 </searchLink><i>NLM ISO Abbreviation: </i>CEN Case Rep <i>Subsets: </i>MEDLINE
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        Value: 10.1007/s13730-025-00972-9
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      – Code: eng
        Text: English
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        StartPage: 396
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      – TitleFull: Case of maternal uniparental isodisomy with autosomal recessive Alport syndrome combined with congenital myasthenia and Oguchi disease.
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            NameFull: Akiyama M
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            NameFull: Matsubara K
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            NameFull: Terashima H
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            NameFull: Abe Y
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            NameFull: Ohno K
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              Text: 2025 Jun
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              Y: 2025
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