A novel frameshift variant in <i>BCOR</i> causes congenital nuclear cataract-Reference-Cited by-同舟云学术

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A novel frameshift variant in BCOR causes congenital nuclear cataract

Published:2024-07-03 Issue: Volume: Page:1-5
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Berry Vanita¹²^ORCID,Ponnekanti Manav B.³^ORCID,Pontikos Nikolas¹²^ORCID,Quinlan Roy A.⁴^ORCID,Michaelides Michel¹²

Affiliation:

1. UCL Institute of Ophthalmology, University College London, London, UK

2. Moorfields Eye Hospital NHS Foundation Trust, London, UK

3. UCL Medical School, University College London, London, UK

4. Department of Biosciences, University of Durham, Durham, UK

Funder

National Institute for Health Research Biomedical Research Centre (NIHR BRC) at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2024.2373248

Reference24 articles.

1. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR

2. The Lenz Microphthalmia Syndrome

3. Genetics of Cataract

4. Ophthalmic Pathology of Nance-Horan Syndrome: Case Report and Review of the Literature

5. Lowe syndrome

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