Can I read Exome Sequencing in Pediatric Leukodystrophy on EtoBox?

Exome Sequencing in Pediatric Leukodystrophy by Eduardo Rios Dubois is a document available to read on EtoBox.

What is Exome Sequencing in Pediatric Leukodystrophy about?

The document describes a study that used targeted gene panel sequencing of 6440 genes to investigate the genetic etiology in 50 children diagnosed with leukodystrophy or genetic leukoencephalopathy of unknown cause based on neuroimaging. Exome sequencing identified variants in 30 (60%) patients, including pathogenic or likely pathogenic variants in 28 patients and variants of unknown significance in 2 patients. The study discusses the clinical and MRI findings and genetic features of the identified disorder

Author

Eduardo Rios Dubois

Language

EN