A novel phenotype associated with the R162W variant in the <i>KCNJ13</i> gene-Reference-Cited by-同舟云学术

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A novel phenotype associated with the R162W variant in the KCNJ13 gene

Published:2022-04-27 Issue:4 Volume:43 Page:500-507
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Schroeder Marion¹,Peter Virginie G.²³^ORCID,Gränse Lotta¹,Andréasson Sten¹,Rivolta Carlo²³^ORCID,Kjellström Ulrika¹

Affiliation:

1. Department of Ophthalmology and Clinical Sciences Lund, Lund University, Skane University Hospital, Lund, Sweden

2. Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland

3. Department of Ophthalmology, University of Basel, Basel, Switzerland

Funder

Stiftelsen för synskadade i f.d. Malmöhus län

Stiftelsen Synfrämjandets Forskningsfond

National Science Foundation

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2022.2068041

Reference30 articles.

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

2. Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy

3. A NovelKCNJ13Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16)

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

5. Clinical features of the congenital vitreoretinopathies

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