Article
Whole-exome sequencing in familial keratoconus: the challenges of a genetically complex disorder.
Arquivos brasileiros de oftalmologia - 1 Jan 2019
Magalhães Otávio de Azevedo, Kowalski Thayne Woycinck, Wachholz Gabriela Elis, Schuler-Faccini Lavinia
Abstract excerpt
PURPOSE: The underlying genetic causes of keratoconus are essentially unknown. Here, we conducted whole-exome sequencing in 2 Brazilian families with keratoconus. METHODS: Whole-exome sequencing was performed on 6 keratoconus-affected individuals of 2 unrelated pedigrees from Southern Brazil. Pathogenic variants were identified in a modified Trio analysis (1 parent and 2 children) using candidate gene filtering....
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