PAX6 Mutational Status Determines Aniridia-Associated Keratopathy Phenotype

被引：45

作者：

Lagali, Neil ^{[1
,2
]}

Wowra, Bogumil ^{[3
]}

Fries, Fabian Norbert ^{[4
]}

Latta, Lorenz ^{[4
]}

Moslemani, Kayed ^{[4
]}

Utheim, Tor Paaske ^{[2
,5
]}

Wylegala, Edward ^{[3
]}

Seitz, Berthold ^{[4
]}

Kasmann-Kellner, Barbara ^{[4
]}

机构：

[1] Linkoping Univ, Fac Hlth Sci, Inst Clin & Expt Med, Dept Ophthalmol, Linkoping, Sweden

[2] Sorlandet Hosp Arendal, Dept Ophthalmol, Arendal, Norway

[3] Med Univ Silesia, Div Dent Zabrze, Sch Med, Clin Dept Ophthalmol, Katowice, Poland

[4] UKS, Klin Augenheilkunde, Homburg, Germany

[5] Oslo Univ Hosp, Dept Ophthalmol, Oslo, Norway

来源：

OPHTHALMOLOGY | 2020年 / 127卷 / 02期

关键词：

D O I：

10.1016/j.ophtha.2019.09.034

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

[No abstract available]

引用

页码：273 / 275

页数：3

共 7 条

[1] The master control gene for morphogenesis and evolution of the eye [J].

Gehring, WJ .

GENES TO CELLS, 1996, 1 (01) :11-15

[2] Detailed Ophthalmologic Evaluation of 43 Individuals with PAX6 Mutations [J].

Hingorani, Melanie ;

Williamson, Kathleen A. ;

Moore, Anthony T. ;

van Heyningen, Veronica .

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2009, 50 (06) :2581-2590

[3]

Käsmann-Kellner B, 2014, OPHTHALMOLOGE, V111, P1145, DOI 10.1007/s00347-014-3060-x

[4] Stage-related central corneal epithelial transformation in congenital aniridia-associated keratopathy [J].

Lagali, Neil ;

Wowra, Bogumil ;

Dobrowolski, Dariusz ;

Utheim, Tor Paaske ;

Fagerholm, Per ;

Wylegala, Edward .

OCULAR SURFACE, 2018, 16 (01) :163-172

[5] A Review of the Clinical and Genetic Aspects of Aniridia [J].

Lee, Hyunjoo J. ;

Colby, Kathryn A. .

SEMINARS IN OPHTHALMOLOGY, 2013, 28 (5-6) :306-312

[6] Comparison between Aniridia with and without PAX6 Mutations Clinical and Molecular Analysis in 14 Korean Patients with Aniridia [J].

Lim, Hyun Taek ;

Seo, Eul-Ju ;

Kim, Gu-Hwan ;

Ahn, Hyosook ;

Lee, Hye-jin ;

Shin, Kwang Hun ;

Lee, Jong-Keuk ;

Yoo, Han-Wook .

OPHTHALMOLOGY, 2012, 119 (06) :1258-1264

[7] Epithelial dendritic cell distribution in normal and inflamed human cornea: In vivo confocal microscopy study [J].

Mastropasqua, Leonardo ;

Nubile, Mario ;

Lanzini, Manuela ;

Carpineto, Paolo ;

Ciancaglini, Marco ;

Pannellini, Tania ;

Di Nicola, Marta ;

Dua, Harminder S. .

AMERICAN JOURNAL OF OPHTHALMOLOGY, 2006, 142 (05) :736-744

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