Phenotypic expansion of <i>KCNJ13-</i>associated snowflake vitreoretinal degeneration-Reference-Cited by-同舟云学术

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Phenotypic expansion of KCNJ13-associated snowflake vitreoretinal degeneration

Published:2022-11-28 Issue: Volume: Page:1-4
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Ashkenazy Noy¹²^ORCID,Sengillo Jesse D.¹,Iyer Prashanth G.¹³,Negron Catherin I.¹,Yannuzzi Nicolas A.¹,Berrocal Audina M.¹

Affiliation:

1. Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida, USA

2. Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, Texas, USA

3. Department of Ophthalmology, Tufts Medical Center, Boston, Massachusetts, USA

Funder

Research to Prevent Blindness

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2022.2149816

Reference15 articles.

1. Snowflake Degeneration in Hereditary Vitreoretinal Degeneration

2. Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal Degeneration

3. Genetic Linkage of Snowflake Vitreoretinal Degeneration to Chromosome 2q36

4. A Distinct Vitreo-retinal Dystrophy with Early-onset Cataract from RecessiveKCNJ13Mutations

5. Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis

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