Article
Clinical description and evaluation of 30 pediatric patients with ultra-rare diseases: A multicenter study with real-world data from Saudi Arabia.
PloS one - 1 Jan 2024
Muthaffar Osama Y, Alazhary Noura W, Alyazidi Anas S, Alsubaie Mohammed A, Bahowarth Sarah Y, Odeh Nour B, Bamaga Ahmed K
Abstract excerpt
BACKGROUND: With the advancement of next-generation sequencing, clinicians are now able to detect ultra-rare mutations that are barely encountered by the majority of physicians. Ultra-rare and rare diseases cumulatively acquire a prevalence equivalent to type 2 diabetes with 80% being genetic in origin and more prevalent among high consanguinity communities including Saudi Arabia. The challenge of these diseases...
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