Clinical and genetic misdiagnosis of autosomal recessive bestrophinopathy

Adrian Fung; Suzanne Yzer; Rando Allikmets

doi:10.1001/jamaophthalmol.2013.5363

Clinical and genetic misdiagnosis of autosomal recessive bestrophinopathy

Adrian Fung
, Suzanne Yzer
, Rando Allikmets

Medical retina and Uveitis

Research output: Contribution to journal › Comment/debate

Original language	English
Pages (from-to)	1651
Journal	JAMA Ophthalmology
Volume	131
Issue number	12
DOIs	https://doi.org/10.1001/jamaophthalmol.2013.5363
Publication status	Published - Dec 2013

Keywords

Chloride Channels/genetics
Eye Proteins/genetics
Female
Humans
Male
Mutation, Missense
Retinoschisis/genetics
Vitelliform Macular Dystrophy/genetics

Access to Document

10.1001/jamaophthalmol.2013.5363

Cite this

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title = "Clinical and genetic misdiagnosis of autosomal recessive bestrophinopathy",

keywords = "Chloride Channels/genetics, Eye Proteins/genetics, Female, Humans, Male, Mutation, Missense, Retinoschisis/genetics, Vitelliform Macular Dystrophy/genetics",

author = "Adrian Fung and Suzanne Yzer and Rando Allikmets",

year = "2013",

month = dec,

doi = "10.1001/jamaophthalmol.2013.5363",

language = "English",

volume = "131",

pages = "1651",

number = "12",

}

TY - JOUR

T1 - Clinical and genetic misdiagnosis of autosomal recessive bestrophinopathy

AU - Fung, Adrian

AU - Yzer, Suzanne

AU - Allikmets, Rando

PY - 2013/12

Y1 - 2013/12

KW - Chloride Channels/genetics

KW - Eye Proteins/genetics

KW - Female

KW - Humans

KW - Male

KW - Mutation, Missense

KW - Retinoschisis/genetics

KW - Vitelliform Macular Dystrophy/genetics

U2 - 10.1001/jamaophthalmol.2013.5363

DO - 10.1001/jamaophthalmol.2013.5363

M3 - Comment/debate

C2 - 24337562

SN - 2168-6165

VL - 131

SP - 1651

JO - JAMA Ophthalmology

JF - JAMA Ophthalmology

IS - 12

ER -