Whole exome sequencing in a series of patients with a clinical diagnosis of tuberous sclerosis not confirmed by targeted tsc1/tsc2 sequencing

Kovesdi, E. ✉ [Kövesdi, Erzsébet (Idegtudomány), author] Department of Medical Genetics (UP / UPMS); Molecular nNeuroendocrinology Research Group (UP / SZRC); Ripszam, R. [Ripszám, Réka (Genetika), author] Department of Medical Genetics (UP / UPMS); Clinical Genetics and Genomics Research Group (UP / SZRC); Postyeni, E. [Pöstyéni, Etelka (Genetika), author] Department of Medical Genetics (UP / UPMS); Clinical Genetics and Genomics Research Group (UP / SZRC); Horvath, E.B.; Kelemen, A. [Kelemen, Anna (Epileptológia, Gy...), author] Országos Klinikai Idegtudományi Intézet; Fabos, B.; Farkas, V. [Farkas, Viktor (gyermekgyógyászat...), author] I. Department of Pediatrics (SU / FM / C); Hadzsiev, K. [Hadzsiev, Kinga (Genetika), author] Department of Medical Genetics (UP / UPMS); Clinical Genetics and Genomics Research Group (UP / SZRC); Sumegi, K. [Sümegi, Katalin (Genetika), author] Department of Biochemistry and Medical Chemistry (UP / UPMS); Department of Medical Genetics (UP / UPMS); Clinical Genetics and Genomics Research Group (UP / SZRC); Magyari, L. [Magyari, Lili (Genetika), author] Department of Medical Genetics (UP / UPMS); Clinical Genetics and Genomics Research Group (UP / SZRC); Moreno, P.G.; Bauer, P.; Melegh, B. [Melegh, Béla (Genetika, gyermek...), author] Department of Medical Genetics (UP / UPMS); Clinical Genetics and Genomics Research Group (UP / SZRC)

Fundings:

• (EFOP-3.6.1.-16-2016-00004) Funder: EFOP
• (2.3.2-15-2016-00039) Funder: GINOP
• (K138669) Funder: HSRF
• (PD115677) Funder: HSRF