Copy Number Variants in 30 Saudi Pediatric Patients with Neurodevelopmental Disorders: From Unknown Significance to Diagnosis
This study underscores the importance of continuously documenting and revisiting unclassified CNVs in accessible databases to enhance the diagnosis and understanding of complex genotype-phenotype relationships. Reclassifying these CNVs not only accelerates diagnostic processes but also enriches our insight into their significant roles in health and disease.
Authors
- Taghrid Aloraini (ORCID: https://orcid.org/0000-0001-5930-7072)
- Amerh Alqahtani (ORCID: https://orcid.org/0000-0003-4713-3735)
- Raniah S. Alotibi (ORCID: https://orcid.org/0009-0005-2531-9258)
- Khalidah Khalid Nasser (ORCID: https://orcid.org/0000-0001-6727-4856)
- Methgal A. Shammari
- Mariam M. Al Eissa
Institutions
- Alfaisal University (SA)
- King Abdulaziz University (SA)
- King Saud bin Abdulaziz University for Health Sciences (SA)
- King Saud Medical City (SA)
- King Saud University (SA)
- King Abdulaziz Medical City (SA)
- King Abdullah International Medical Research Center (SA)
- National Guard Health Affairs (SA)
Publication Details
- Journal
- Saudi Journal of Medicine and Medical Sciences
- Published
- 2024-10-01
- DOI
- https://doi.org/10.4103/sjmms.sjmms_155_24
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- King Salman Center for Disability Research