Article

The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing

2020-03-04

Abstract excerpt

<title>Abstract</title> <p>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 hos...

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Literature Corpus work: edf7c21f-1161-578b-8658-375dd0666ab1
DOI: 10.21203/rs.3.rs-16030/v1

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