Article
Genotypic and phenotypic features of 23 Egyptian patients with tuberous sclerosis complex.
BMC pediatrics - 10 Jun 2026
Othman Amr A, Sadek Abdelrahim A, Aladawy Mohammed A, Aziz Shereen Philip, Sedky Ahmed, Mansour Tarek M M, Younis Mohammed M S, Abdelatif Rania G, Hassan Abd El-Monem M, Aboelmagd Marwa Ali, Mohamed Marwa, Mohamed Kawashty R, Elkousy Salma Mohamed, Montaser Elkady Nada M, Khang Rin, Ryu Seung Woo, Abdelkreem Elsayed
Abstract excerpt
BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystem disease caused by pathogenic variants in TSC1 or TSC2 genes. Although features of TSC have been described in various populations, genetic data from Egypt remain scarce. This study aimed to characterize the phenotypic and molecular features of TSC among a cohort of Egyptian patients. METHODS: This observational study included patients clinically...
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