Expanding the genetic and phenotypic spectrum of Baker–Gordon syndrome: a new de novo SYT1 variant. - Cotrina-Vinagre, Francisco Javier; Rodríguez-García, María Elena; Del Pozo-Filíu, Lucía; Quijada-Fraile, Pilar; Martínez-Azorín, Francisco (Journal of Genetics, 2024)