Article
A Cohesin Subunit Variant Identified from a Peripheral Sclerocornea Pedigree.
Disease markers - 1 Jan 2019
Zhang Bi Ning, Chan Tommy Chung Yan, Tam Pancy Oi Sin, Liu Yu, Pang Chi Pui, Jhanji Vishal, Chen Li Jia, Chu Wai Kit
Abstract excerpt
BACKGROUND: Sclerocornea is a rare congenital disorder characterized with the opacification of the cornea. Here, we report a nonconsanguineous Chinese family with multiple peripheral sclerocornea patients spanning across three generations inherited in an autosomal dominant manner. METHODS: This is a retrospective case series of a peripheral sclerocornea pedigree. Comprehensive ophthalmic examinations were...
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