Article
Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families.
BMC medical genetics - 4 Sept 2020
Froukh Tawfiq, Hawwari Ammar, Al Zubi Khalid
Abstract excerpt
BACKGROUND: Keratoconus (KC) is usually bilateral, noninflammatory progressive corneal ectasia in which the cornea becomes progressively thin and conical, resulting in myopia, irregular astigmatism, and corneal scarring. METHODS: Eight families characterized by consanguineous marriages and/or multiple keratoconic individuals were examined genetically. Whole exome sequencing was done as trio or quadro per family....
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