Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants
BALKAN MEDICAL JOURNAL, vol.38, no.6, pp.341-347, 2021 (SCI-Expanded, Scopus, TRDizin)
- Publication Type: Article / Article
- Volume: 38 Issue: 6
- Publication Date: 2021
- Doi Number: 10.5152/balkanmedj.2021.21092
- Journal Name: BALKAN MEDICAL JOURNAL
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, Central & Eastern European Academic Source (CEEAS), CINAHL, EMBASE, MEDLINE, Veterinary Science Database, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
- Page Numbers: pp.341-347
- Open Archive Collection: AVESIS Open Access Collection
- Ondokuz Mayıs University Affiliated: Yes
Abstract
Background: Tuberous Sclerosis Complex is an autosomal dominant multi-system disorder with an incidence of about 1 in 6000 live births. Defects in either TSC1 (* 605284) or TSC2 (* 191092) genes encoding the components of the Tuberous Sclerosis Complex are responsible for the disease. Therefore, consideration of TSC1/TSC2 pathogenic variations is recommended in the updated diagnostic criteria of Tuberous Sclerosis Complex.