Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI

Kattan Jaffer M.; Carlos Serna-Ojeda Juan; Sharma AnushreeKim Eung K.Ramirez-Miranda ArturoCruz-Aguilar MarisaCervantes Aleck E.Frausto Ricardo F.Carlos Zenteno JuanGraue-Hernandez Enrique O.Aldave Anthony J.

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Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI

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Purpose: To describe 2 unrelated families with multiple members demonstrating a less commonly recognized vortex pattern of corneal deposits confirmed to be granular corneal dystrophy type 1 (GCD1) after identification of the p.(Arg555Trp) mutation in the transforming growth factor beta-induced gene (TGFBI).

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来源
《Cornea》 |2017年第2期|210-216|共7页
作者
Kattan Jaffer M.; Carlos Serna-Ojeda Juan; Sharma AnushreeKim Eung K.Ramirez-Miranda ArturoCruz-Aguilar MarisaCervantes Aleck E.Frausto Ricardo F.Carlos Zenteno JuanGraue-Hernandez Enrique O.Aldave Anthony J.;
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作者单位

Univ Calif Los Angeles, Stein Eye Inst, 200 Stein Plaza, Los Angeles, CA 90095 USA;

Inst Ophthalmol Conde de Valenciana, Dept Cornea & Refract Surg, Mexico City, DF, Mexico;

Yonsei Univ, Dept Ophthalmol, Seoul, South KoreaInst Ophthalmol Conde de Valenciana, Dept Genet, Res Unit, Mexico City, DF, Mexico;

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原文格式 PDF
正文语种英语
中图分类眼科学;
关键词
granular corneal dystrophy; TGFBI; vortex; corneal epithelium;

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机译：A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy
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机译：Confirmation of association of TGFBI p.Ser591Phe mutation with variant lattice corneal dystrophy
3. Mutation analysis of the TGFBI gene in pedigrees of lattice corneal dystrophy in Eastern China [J] . Li Tiankun, Wu Shuangqing, Wen YajingZhang XinDai Qi Ophthalmic genetics . 2022,第5期

机译：Mutation analysis of the TGFBI gene in pedigrees of lattice corneal dystrophy in Eastern China

Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI

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