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

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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
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  Data: Variants in the CxxC domain of the epigenetic regulator KDM2B support its role in developmental eye anomalies.
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  Data: <searchLink fieldCode="AU" term="%22Ceroni+F%22">Ceroni F</searchLink>; School of Biological and Medical Sciences, Faculty of Health, Science and Technology, Oxford Brookes University, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Reis+LM%22">Reis LM</searchLink>; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, WI, USA.<br /><searchLink fieldCode="AU" term="%22Watkins+F%22">Watkins F</searchLink>; School of Biological and Medical Sciences, Faculty of Health, Science and Technology, Oxford Brookes University, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Bax+DA%22">Bax DA</searchLink>; School of Biological and Medical Sciences, Faculty of Health, Science and Technology, Oxford Brookes University, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Fischer+MC%22">Fischer MC</searchLink>; Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI, USA.<br /><searchLink fieldCode="AU" term="%22Jeganathan+K%22">Jeganathan K</searchLink>; School of Biological and Medical Sciences, Faculty of Health, Science and Technology, Oxford Brookes University, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Jewell+R%22">Jewell R</searchLink>; Leeds Clinical Genomics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Martin+JS%22">Martin JS</searchLink>; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, WI, USA.<br /><searchLink fieldCode="AU" term="%22Salt+A%22">Salt A</searchLink>; Kids Rehab WA, Perth Children's Hospital, Nedlands, WA, Australia.; UCL, Great Ormond Street Institute of Child Health, London, UK.<br /><searchLink fieldCode="AU" term="%22Seese+SE%22">Seese SE</searchLink>; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, WI, USA.<br /><searchLink fieldCode="AU" term="%22Thomson+J%22">Thomson J</searchLink>; Leeds Clinical Genomics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Semina+EV%22">Semina EV</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ragge+NK%22">Ragge NK</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2026 Jun; Vol. 34 (6), pp. 874-879. <i>Date of Electronic Publication: </i>2026 Apr 07.
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              Text: 2026 Jun
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