Publications by authors named "Sara H Ouda"
Article Synopsis
- Natriuretic peptide receptor 2 (NPR2) is crucial for growth and bone development, and variations in its gene can lead to conditions like Acromesomelic Dysplasia and short stature.
- The study examines eight specific NPR2 genetic variants to understand their functional impacts, identifying defects in cellular trafficking and cGMP production in some variants.
- Results show a difference in effects between variants, hinting that some lead to milder symptoms (like short stature), which contributes to a better understanding of the genotype-phenotype relationship in these disorders.
Intracranial cavernous angiomas or cavernomas (ICCs) are abnormal blood-filled vasculatures made of mono-endothelial layer and characterized by their bubble-like caverns. Brainstem cavernomas (BSCs) is a critical form of ICCs since slight changes in the lesion can result in devastating or life-threatening outcomes. We hereby present a rare case of BSC developed in the mesencephalic tectum with intraventricular bleeding and Parinaud's Syndrome.
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