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 MB, Castro GDME, Pereira SSS, Uchoa EMGS, Zatarin R, Minasi LB, da Cruz AD

International Medical Case Reports Journal 2024, 17:63-70

Published Date: 24 January 2024