Variants in the CxxC domain of the epigenetic regulator KDM2B support its role in developmental eye anomalies.

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Bibliographic Details
Title: Variants in the CxxC domain of the epigenetic regulator KDM2B support its role in developmental eye anomalies.
Authors: Ceroni F; School of Biological and Medical Sciences, Faculty of Health, Science and Technology, Oxford Brookes University, Oxford, UK., Reis LM; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, WI, USA., Watkins F; School of Biological and Medical Sciences, Faculty of Health, Science and Technology, Oxford Brookes University, Oxford, UK., Bax DA; School of Biological and Medical Sciences, Faculty of Health, Science and Technology, Oxford Brookes University, Oxford, UK., Fischer MC; Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI, USA., Jeganathan K; School of Biological and Medical Sciences, Faculty of Health, Science and Technology, Oxford Brookes University, Oxford, UK., Jewell R; Leeds Clinical Genomics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Martin JS; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, WI, USA., Salt A; Kids Rehab WA, Perth Children's Hospital, Nedlands, WA, Australia.; UCL, Great Ormond Street Institute of Child Health, London, UK., Seese SE; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, WI, USA., Thomson J; Leeds Clinical Genomics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Semina EV; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, WI, USA.; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, WI, USA.; Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI, USA., Ragge NK; School of Biological and Medical Sciences, Faculty of Health, Science and Technology, Oxford Brookes University, Oxford, UK. nragge@brookes.ac.uk.; West Midlands Regional Clinical Genetics Service, Birmingham Women's and Children's NHS Foundation Trust and Birmingham Health Partners, Birmingham, UK. nragge@brookes.ac.uk.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jun; Vol. 34 (6), pp. 874-879. Date of Electronic Publication: 2026 Apr 07.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1476-5438
DOI:10.1038/s41431-026-02090-1