Alazami syndrome with a single LARP7 variant and concurrent osteo-oto-hepato-enteric syndrome: A case of complex genetic interplay
Radiol Case Rep. 2025 Mar 9;20(5):2619-2623. doi: 10.1016/j.radcr.2025.01.082. eCollection 2025 May. ABSTRACT Alazami syndrome is a rare autosomal recessive disorder characterized by primordial dwarfism, intellectual …