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

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

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Bibliographic Details
Main Authors: Erzsebet Kovesdi, Reka Ripszam, Etelka Postyeni, Emese Beatrix Horvath, Anna Kelemen, Beata Fabos, Viktor Farkas, Kinga Hadzsiev, Katalin Sumegi, Lili Magyari, Pilar Guatibonza Moreno, Peter Bauer, Bela Melegh
Format: Article
Language:English
Published: MDPI AG 2021-09-01
Series:Genes
Subjects:
tuberous sclerosis complex
no mutation identified
Whole Exome Sequencing
Online Access:https://www.mdpi.com/2073-4425/12/9/1401

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https://www.mdpi.com/2073-4425/12/9/1401

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