Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome.
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| Title: | Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome. |
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| Authors: | Nishina S; Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan. nishina-s@ncchd.go.jp., Torii K; Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan., Ishitani S; Department of Homeostatic Regulation, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan., Yoshida T; Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan., Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan., Kurosawa K; Center for Medical Genetics, National Center for Child Health and Development, Tokyo, Japan., Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Shizuoka, Japan., Ishitani T; Department of Homeostatic Regulation, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan., Hotta Y; Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan. |
| Source: | Journal of human genetics [J Hum Genet] 2026 Feb; Vol. 71 (2), pp. 97-103. Date of Electronic Publication: 2025 Sep 16. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40954203 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Nishina+S%22">Nishina S</searchLink>; Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan. nishina-s@ncchd.go.jp.<br /><searchLink fieldCode="AU" term="%22Torii+K%22">Torii K</searchLink>; Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Ishitani+S%22">Ishitani S</searchLink>; Department of Homeostatic Regulation, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan.<br /><searchLink fieldCode="AU" term="%22Yoshida+T%22">Yoshida T</searchLink>; Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Fukami+M%22">Fukami M</searchLink>; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Kurosawa+K%22">Kurosawa K</searchLink>; Center for Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Kosaki+K%22">Kosaki K</searchLink>; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Saitsu+H%22">Saitsu H</searchLink>; Department of Biochemistry, Hamamatsu University School of Medicine, Shizuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Ishitani+T%22">Ishitani T</searchLink>; Department of Homeostatic Regulation, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan.<br /><searchLink fieldCode="AU" term="%22Hotta+Y%22">Hotta Y</searchLink>; Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229808008%22">Journal of human genetics</searchLink> [J Hum Genet] 2026 Feb; Vol. 71 (2), pp. 97-103. <i>Date of Electronic Publication: </i>2025 Sep 16. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Case Reports – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Group%22">Nature Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9808008 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1435-232X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214345161%22">14345161 </searchLink><i>NLM ISO Abbreviation: </i>J Hum Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40954203 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/s10038-025-01395-1 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 97 Titles: – TitleFull: Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Nishina S – PersonEntity: Name: NameFull: Torii K – PersonEntity: Name: NameFull: Ishitani S – PersonEntity: Name: NameFull: Yoshida T – PersonEntity: Name: NameFull: Fukami M – PersonEntity: Name: NameFull: Kurosawa K – PersonEntity: Name: NameFull: Kosaki K – PersonEntity: Name: NameFull: Saitsu H – PersonEntity: Name: NameFull: Ishitani T – PersonEntity: Name: NameFull: Hotta Y IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 02 Text: 2026 Feb Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1435-232X Numbering: – Type: volume Value: 71 – Type: issue Value: 2 Titles: – TitleFull: Journal of human genetics Type: main |
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