The diagnostic yield of CGH and WES in neurodevelopmental disorders.

ABSTRACT:

Background

Neurodevelopmental disorders are a group of conditions characterized by developmental delays leading to abnormal brain functions. The methods of diagnosis and treatment of these conditions are complicated, and their treatment involves a combination of various forms of therapy. In recent years, the development of high-resolution technologies has played an important role in revealing the microdeletions, microduplications, and single-nucleotide variants of the chromosomes and how they are linked to the development of neurodevelopmental disorders. The wide implementation and application of molecular methodologies have started to shed light on the functional importance of using the appropriate methods in detecting these genetic variations that are categorized as either pathog

SUBMITTER: Alotibi RS 

PROVIDER: S-EPMC10014736 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature