Article

Identification of Novel ADGRV1 and KCNC2 Variants Using Whole-Exome Sequencing in Two Colombian Patients with Usher and Encephalopathy Syndromes

2021-10-27

Abstract excerpt

<title>Abstract</title> <p> <bold>Introduction</bold> : Usher syndrome has a broad phenotypic and genotypic spectrum. Developmental and epileptic encephalopathy-52 (DEE52) is a sever autosomal recessive seizure disorder that is characterized by infantile onset of refractory seizures, consequently resulting in delayed global development. This study aimed to describe the clinical features and to investigate the f...

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Literature Corpus work: c50bbd72-87a9-59ec-9f99-b7846943d061
DOI: 10.21203/rs.3.rs-923411/v1

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