Clinical report: a rare co-occurrence of tuberous sclerosis complex and Rett syndrome in a girl with mental retardation, epilepsy and autism

Article OPEN
Belousova, Elena; Sukhorukov, Vladimir; Dorofeeva, Marina; Shagam, Lev; Vlodavetz, Dmitrii V.;
(2017)

Introduction. There are some genetic disorders with combination of mental retardation, epilepsy and autism in which the abnormal mammalian Target of Rapamycin (m-TOR) signaling is implicated. The most important of them is tuberous sclerosis complex (TSC), but the distur... View more
Share - Bookmark

  • Download from
    ZENODO via ZENODO (Article, 2017)
  • Cite this publication