Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome.

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Bibliographic Details
Title: Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome.
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
Description
ISSN:1435-232X
DOI:10.1038/s10038-025-01395-1