Genotype-Phenotype Correlation forTGFBICorneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy-Reference-Cited by-同舟云学术

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Genotype-Phenotype Correlation forTGFBICorneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy

Published:2016-10-13 Issue:13 Volume:57 Page:5407
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Evans Cerys J.¹,Davidson Alice E.¹,Carnt Nicole²,Rojas López Karla E.¹,Veli Neyme³,Thaung Caroline M.⁴,Tuft Stephen J.⁴,Hardcastle Alison J.¹

Affiliation:

1. University College London (UCL), Institute of Ophthalmology, London, United Kingdom

2. Moorfields Eye Hospital, London, United Kingdom 3Save Sight Institute, The University of Sydney, Sydney, New South Wales, Australia

3. Moorfields Eye Hospital, London, United Kingdom

4. University College London (UCL), Institute of Ophthalmology, London, United Kingdom 2Moorfields Eye Hospital, London, United Kingdom

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

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1. Cornea and Sclera;Ocular Pathology;2025

2. The Co-Occurrence of 22q11.2 Deletion Syndrome and Epithelial Basement Membrane Dystrophy: A Case Report and Review of the Literature;Life;2024-08-13

3. Early Detection of Subclinical Corneal Abnormalities: Biophotonic Imaging Reveals Hyporeflective Bleb-Like Structures in Asymptomatic Eyes;American Journal of Case Reports;2024-07-17

4. Genetic predisposition to ocular surface disorders and opportunities for gene-based therapies;The Ocular Surface;2023-07

5. Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature;International Journal of Molecular Sciences;2023-03-06

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