Article
Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene.
Ophthalmic genetics - 1 Dec 2010
Liskova Petra, Filipec Martin, Merjava Stanislava, Jirsova Katerina, Tuft Stephen J
Abstract excerpt
PURPOSE: To describe the ocular features of 6 Czech and British patients with posterior polymorphous corneal dystrophy (PPCD) caused by mutations in the zinc finger E-box binding homeobox 1 gene (ZEB1). METHODS: Case note review of 4 individuals with p.E776fs mutation, one with p.Y719X and one wi...
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