Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts
Author:
Affiliation:
1. Department of Genetics, Ucl Institute of Ophthalmology, University College London, London, UK
2. Moorfields Eye Hospital NHS Foundation Trust, London, UK
3. School of Biological and Medical Sciences, University of Durham, Durham, UK
Funder
National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust
UCL Institute of Ophthalmology
Moorfields Eye Charity
the Rosetree Trust
Publisher
Informa UK Limited
Subject
Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.1998556
Reference35 articles.
1. Clinical and genetic heterogeneity in autosomal dominant cataract
2. Biology of Inherited Cataracts and Opportunities for Treatment
3. Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches
4. Effects of 1.8 GHz radiofrequency radiation on protein expression in human lens epithelial cells
5. Human Cytochrome P450 21A2, the Major Steroid 21-Hydroxylase
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