c.1103T>C (p.Ile368Th) de novo Variant in Synaptotagmin 1 (SYT1) Gene is Pathogenic, Leading to an Ultra-Rare Neurodevelopmental Disorder: The Baker-Gordon Syndrome
Porto, Milena Barbosa ; Castro, Geovanna da Mata E ; Pereira, Samara Socorro Silva ; Uchoa, Elza Maria Gonçalves Santos ; Zatarin, Raffael ; Minasi, Lysa Bernardes ; da Cruz, Aparecido D
International medical case reports journal, 2024, Vol.17, p.63-70Texto completo disponível