2020
DOI: 10.21203/rs.3.rs-16030/v1
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The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing

Abstract: Purpose Congenital cataract (CC) is a significant cause of lifelong visual loss. Its genetic diagnosis is challenging due to marked genetic heterogeneity. The purpose of this article is to report the genetic findings in sporadic and familial CC patients.Methods Patients (n=54) who were clinically diagnosed with CC and their parents were recruited. Blood samples were collected in our hospital. Mutations were detected by high-throughput, next-generation DNA sequencing (NGS) targeting 792 genes frequently involve… Show more

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