Article
A family of fuchs endothelial corneal dystrophy and anterior polar cataract with an analysis of whole exome sequencing.
Ophthalmic genetics - 1 Jun 2020
Jiang Xue, Jin Xin, Zhang Nan, Zhang Hong
Abstract excerpt
PURPOSE: Our aim was to introduce a family affected by this rare phenotype, and perform the whole exome sequencing (WES) to explore the potential candidate genes causing the disorders. METHODS: A five-generation family including five patients affected by FECD with APC, and nine patients suffered from only FECD was recruited from the First Affiliated Hospital of Harbin Medical University. All participants received...
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