An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the presence of hamartomas in multiple organs. At the molecular level, the disease is caused by pathogenic variants in the TSC1 and TSC2 genes, and only 10% to 25% of clinically diagnosed patients remain nega...

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Veröffentlicht in:	The Journal of molecular diagnostics : JMD 2023-09, Vol.25 (9), p.692-701
Hauptverfasser:	Blasco-Pérez, Laura, Iranzo-Nuez, Leticia, López-Ortega, Ricard, Martínez-Cruz, Desirée, Camprodon-Gómez, María, Tenés, Anna, Antolín, María, Tizzano, Eduardo F, García-Arumí, Elena
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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