A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype-Reference-Cited by-同舟云学术

A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype

Published:2020-07-27 Issue:5 Volume:41 Page:480-484
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

DeBenedictis Meghan J.¹^ORCID,Gindzin Yosef²,Glaab Enrico³,Anand-Apte Bela¹⁴

Affiliation:

1. Cleveland Clinic Foundation, Cole Eye Institute, Cleveland, Ohio, USA

2. Grand Rapids Ophthalmology, Grand Rapids, Michigan, USA

3. Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg

4. Department of Ophthalmology and Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine at Case Western Reserve University, Cleveland, Ohio, USA

Funder

the US National Institute of Health

Cleveland Clinic Foundation

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1795889

Reference43 articles.

1. A FUNDUS DYSTROPHY WITH UNUSUAL FEATURES (Late onset and dominant inheritance of a central retinal lesion showing oedema, haemorrhage and exudates developing into generalised choroidal atrophy with massive pigment proliferation)

2. Pseudoinflammatory fundus dystrophy: a follow-up study

3. Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes

4. Further Cases of a Fundus Dystrophy with Unusual Features

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