Article

Exome Sequencing Identifies a Novel GUCY2D Mutation in an Iranian Family with Leber Congenital Amaurosis-1: A Case Report

2021-11-08

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Leber congenital amaurosis (LCA), the severe form of inherited retinal degenerative disorder is a prevalent disorder in the first year of life. Recently, genetic studies discovered that different gene mutations are responsible for LCA clinical manifestations. <bold>Case presentation: </bold>In this study, we applied whole exome sequencing (WES) to identify proba...

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Literature Corpus work: da7e16f6-38c9-5142-923d-4994a8ffc454
DOI: 10.21203/rs.3.rs-586904/v1

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