Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes–Brocks Syndrome

por Innoceta, Anna Maria, Olivucci, Giulia, Parmeggiani, Giulia, Scarano, Emanuela, Pragliola, Antonella, Graziano, Claudio
Publicado 2023