Two cases of SPEN haploinsufficiency presenting with dystoniaBuikema, Lisa (Avtor) Lokar, Matej (Avtor) Vinke, Ruben Saman (Avtor) Peterlin, Borut (Avtor) Bergant, Gaber (Avtor) Georgiev, Dejan (Avtor) dystoniatremorSPEN proteinhaploinsuficiencysubjective well-beingchromosome 1p36deletion syndromeintellectual disability20262026-07-01 11:00:30Neznano30703UDK: 616.8ISSN pri članku: 2330-1619DOI: 10.1002/mdc3.70531COBISS_ID: 264612099sl