A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease-Reference-Cited by-同舟云学术

A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease

Published:2022-12-08 Issue:23 Volume:7 Page:
ISSN:2379-3708
Container-title:JCI Insight
language:en
Short-container-title:

Author:

Kolesnikova Masha^ORCID,Oh Jin Kyun^ORCID,Wang Jiali^ORCID,Lee Winston,Zernant Jana,Su Pei-Yin,Kim Angela H.^ORCID,Jenny Laura A.^ORCID,Yang Tingting,Allikmets Rando^ORCID,Tsang Stephen H.^ORCID

Funder

NIH Clinical Center

Irma T. Hirschl Trust

New York State Stem Cell Science

Foundation Fighting Blindness

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Link

https://insight.jci.org/articles/view/162687/files/pdf

Reference40 articles.

1. Three-dimensional Distribution of the Vitelliform Lesion, Photoreceptors, and Retinal Pigment Epithelium in the Macula of Patients With Best Vitelliform Macular Dystrophy

2. Best vitelliform macular dystrophy: literature review;Budiene;Cent Eur J Med,2014

3. Phenotype and Genotype of Patients with Autosomal Recessive Bestrophinopathy

4. Vitelliform dystrophies: Prevalence in Olmsted County, Minnesota, United States

5. Molecular evidence for non-penetrance in Best's disease.

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