Article
Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies.
Scientific reports - 2 Jan 2025
Hussain Ashraf, Villalba Maria Fernanda, Swols Dayna Morel, Khzam Rayan Abou, Johnson Brittney Keira, Peart LéShon, D'Haiti Sarha, Grajewski Alana L, Tekin Mustafa, Chang Ta Chen, Bademci Guney
Abstract excerpt
Congenital anterior segment anomalies are disorders that affect the development of the eye and cause severe visual impairment. The molecular basis of congenital anterior segment anomalies is not well known. In this study, genome sequencing was performed on 27 families from diverse ethnicities with congenital anterior segment anomalies and 11 variants were identified, most of which were novel and family specific....
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