Phenotype and Genotype of Patients with Autosomal Recessive Bestrophinopathy-Reference-Cited by-同舟云学术

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Phenotype and Genotype of Patients with Autosomal Recessive Bestrophinopathy

Published:2011-08-02 Issue:3 Volume:33 Page:123-129
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

MacDonald Ian M.,Gudiseva H. V.,Villanueva Adda,Greve Mark,Caruso Rafael,Ayyagari Radha

Publisher

Informa UK Limited

Subject

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

Link

http://www.tandfonline.com/doi/pdf/10.3109/13816810.2011.592172

Reference34 articles.

1. Identification of the gene responsible for Best macular dystrophy

2. A Gene Map of the Best’s Vitelliform Macular Dystrophy Region in Chromosome 11q12–q13.1

3. Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

4. Late Development of Vitelliform Lesions and Flecks in a Patient With Best Disease

5. Variant Phenotype of Best Vitelliform Macular Dystrophy Associated with Compound Heterozygous Mutations inVMD2

Cited by 30 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease;JCI Insight;2022-12-08

2. Case report: Autosomal recessive bestrophinopathy with macular cysts and MNV over 13-year follow-up;Frontiers in Genetics;2022-11-15

3. BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity;Molecular Genetics & Genomic Medicine;2022-11-15

4. Autosomal Recessive Bestrophinopathy Presenting With a Macular Hole Retinal Detachment;Journal of VitreoRetinal Diseases;2022-07

5. Twelve-year follow up of a case of autosomal recessive bestrophinopathy with transient resolution of retinal edema in one eye;European Journal of Ophthalmology;2022-01-06

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