Karlinger, Kinga; Tárnoki, Ádám Domonkos; Tárnoki, Dávid László; Polvi A; Lehesjoki AE; Kelemen A; Szegedi L; Turányi, Eszter; Kamondi, Anita; Szűcs, Anna
(2014)
We present a clinical, neuro-radiological and genetic study on a family with members suffering from an autosomal dominantly inherited syndrome characterised by epilepsy, cerebral calcifications and cysts, bone abnormalities; ...