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, cilt.38, sa.6, ss.341-347, 2021 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 38 Sayı: 6
- Basım Tarihi: 2021
- Doi Numarası: 10.5152/balkanmedj.2021.21092
- Dergi Adı: BALKAN MEDICAL JOURNAL
- Derginin Tarandığı İndeksler: 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)
- Sayfa Sayıları: ss.341-347
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Ondokuz Mayıs Üniversitesi Adresli: Evet
Özet
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.