Copy Number Variants in 30 Saudi Pediatric Patients with Neurodevelopmental Disorders: From Unknown Significance to Diagnosis

Background: Structural variants (SVs), such as copy number variants (CNVs), insertions, deletions, inversions, and translocations, contribute significantly to genetic diversity and disease etiology. CNVs, which involve the duplication or deletion of DNA segments, are particularly impactful on genes...

Full description

Saved in:

Bibliographic Details
Published in:	Saudi journal of medicine and medical sciences Vol. 12; no. 4; pp. 292 - 298
Main Authors:	Alotibi, Raniah Saleem, Al Eissa, Mariam M, Aloraini, Taghrid, Nasser, Khalidah Khalid, Al Shammari, Muneera J, Alqahtani, Amerh S
Format:	Journal Article
Language:	English
Published:	India Medknow Publications and Media Pvt. Ltd 01-10-2024 Wolters Kluwer - Medknow Wolters Kluwer Medknow Publications
Subjects:	array Autism Birth defects Children copy number variant Development and progression exome sequencing foxp1 Genes Genetic disorders Health aspects Medical genetics Original Pediatrics Single nucleotide polymorphisms variant of unknown significance Saudi Arabia
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Be the first to leave a comment!