Abstract:Background: Congenital cataract (CC) is the most common reason for visual loss and blindness at birth or early childhood worldwide. The autosomal dominant (AD) inheritance is reported as the most frequent transmission pattern for CC. Connexin 46 (Cx46 coded by GJA3 gene) belongs to the gap junction proteins family which has the main function in the cell communication system of the eye lens. Methods: In the present research, whole-exome sequencing (WES) was done for proband diagnosed by CC, and Co-segregation a… Show more
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