Ocular Phenotype Analysis of a Family With Biallelic Mutations in the BEST1 Gene-Reference-Cited by-同舟云学术

Ocular Phenotype Analysis of a Family With Biallelic Mutations in the BEST1 Gene

Published:2014-03 Issue:3 Volume:157 Page:697-709.e2
ISSN:0002-9394
Container-title:American Journal of Ophthalmology
language:en
Short-container-title:American Journal of Ophthalmology

Author:

Sharon Dror,Al-Hamdani Sermed,Engelsberg Karl,Mizrahi-Meissonnier Liliana,Obolensky Alexey,Banin Eyal,Sander Birgit,Jensen Hanne,Larsen Michael,Schatz Patrik

Publisher

Elsevier BV

Subject

Ophthalmology

Reference35 articles.

1. MacDonald IM, Lee T. Best Vitelliform Macular Dystrophy. In: GeneReviews [electronic resource]. Available at http://www.ncbi.nlm.nih.gov/books/NBK1167/. Accessed December 4, 2013.

2. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC);Yardley;Invest Ophthalmol Vis Sci,2004

3. A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode;Bitner;Invest Ophthalmol Vis Sci,2011

4. Biallelic mutation of BEST1 causes a distinct retinopathy in humans;Burgess;Am J Hum Genet,2008

5. ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing;Burgess;J Med Genet,2009

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