Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted TSC1/TSC2 Sequencing

Background: Approximately fifteen percent of patients with tuberous sclerosis complex (TSC) phenotype do not have any genetic disease-causing mutations which could be responsible for the development of TSC. The lack of a proper diagnosis significantly affects the quality of life for these patients a...

Descripción completa

Detalles Bibliográficos
Autores principales: Kovesdi, Erzsebet, Ripszam, Reka, Postyeni, Etelka, Horvath, Emese Beatrix, Kelemen, Anna, Fabos, Beata, Farkas, Viktor, Hadzsiev, Kinga, Sumegi, Katalin, Magyari, Lili, Moreno, Pilar Guatibonza, Bauer, Peter, Melegh, Bela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8471884/
https://www.ncbi.nlm.nih.gov/pubmed/34573383
http://dx.doi.org/10.3390/genes12091401

Ejemplares similares

Ejemplares similares