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Ophthalmic Genetics Volume 39, 2018 - Issue 6
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Case Reports

A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype

Fukutaro ManoDepartments of Ophthalmology, Mayo Clinic, Rochester, MN, USAView further author information
,
Stephen A. LoBueDepartments of Ophthalmology, Mayo Clinic, Rochester, MN, USAORCID Iconhttp://orcid.org/0000-0003-2899-7730View further author information
ORCID Icon,
Timothy W. OlsenOphthalmology Research, Mayo Clinic, Rochester, MN, USAView further author information
,
Alan D. MarmorsteinOphthalmology Research, Mayo Clinic, Rochester, MN, USAView further author information
&
Jose S. PulidoDepartments of Ophthalmology, Mayo Clinic, Rochester, MN, USA;Ocular Oncology, Mayo Clinic, Rochester, MN, USA;Vitreoretinal Diseases, Mayo Clinic, Rochester, MN, USACorrespondence[email protected]
View further author information
Pages 749-753 | Received 30 Apr 2018, Accepted 03 Sep 2018, Published online: 17 Sep 2018

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Fukutaro Mano, Cynthia Pfannkoch, Stephen A. LoBue, Timothy W. Olsen, Alan D. Marmorstein & Jose S. Pulido. (2019) Response to Weisschuh’s “Comment: a novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype”. Ophthalmic Genetics 40:1, pages 88-89.
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Articles from other publishers (2)

Tsun-Kang Chiang & Minzhong Yu. (2023) Electrophysiological Evaluation of Macular Dystrophies. Journal of Clinical Medicine 12:4, pages 1430.
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Mariana Matioli da Palma, Maurício E Vargas, Amanda Burr, Rui Chen, Mark E Pennesi, Richard G Weleber & Paul Yang. (2021) Variable expressivity of BEST1 -associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree . BMJ Open Ophthalmology 6:1, pages e000813.
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