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Cardiac rhabdomyomas in tuberous sclerosis complex: clinical manifestations and genotype correlations

Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by hamartoma formation in multiple organs, including the heart. Cardiac rhabdomyomas (CRs) are the most common cardiac tumors in infancy and occur in up to 80% of individuals with TSC. While...

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Principais autores: Andrea Domenico Praticò, Manuela Lo Bianco, Andrea Laganà, Claudia Di Napoli, Stefania Salafia, Pietro Sciacca, Agata Polizzi, Martino Ruggieri
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2025-12-01
Serier:BMC Pediatrics
Fag:
TSC1
TSC2
Tuberous sclerosis complex
Seizures
Genotype/Phenotype
Online adgang:https://doi.org/10.1186/s12887-025-06383-0
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