Publications by authors named "Noura Mostafa Mohamed Mostafa"
Hum Genomics
September 2024
Article Synopsis
- Chromosome 16p11.2 deletions and duplications are significant genetic variations linked to a range of clinical outcomes, including developmental delays and autism spectrum disorders, with phenotypic differences among individuals.
- This study identified a de novo recurrent deletion in a Saudi girl, leading to severe cognitive and motor disabilities, alongside rare symptoms like optic atrophy and Dandy-Walker spectrum features.
- The research aims to enhance understanding of genetic disorders in the MENA region, highlighting the unique genetic variations present despite the rarity of these conditions.
