The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants
This study presents the first cohort of GWMDs reported from the Beni-Suef Governorate, Upper Egypt. The study provides significant data regarding regional etiological patterns, clinical trajectories, and molecular profiles. Additionally, the study findings provide a foundational framework for establishing a national GWMD registry and inform future diagnostic and therapeutic strategies.
Authors
- Maha Saad Zaki (ORCID: https://orcid.org/0000-0001-7840-0002)
- Mahmoud M. Noureldeen (ORCID: https://orcid.org/0000-0003-2289-8950)
- Karima Rafat (ORCID: https://orcid.org/0000-0003-4596-3014)
- Mohamed S. Abdel‐Hamid (ORCID: https://orcid.org/0000-0002-2480-0147)
- Aida M. S. Salem (ORCID: https://orcid.org/0000-0003-4426-9389)
Institutions
- Beni-Suef University (EG)
- National Human Genome Research Institute (US)
- National Research Centre (EG)
Publication Details
- Journal
- The Italian Journal of Pediatrics/Italian journal of pediatrics
- Published
- 2025-06-13
- DOI
- https://doi.org/10.1186/s13052-025-02031-6
- Citations
- 1
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- National Research Centre
- Beni-Suef University
- Science and Technology Development Fund