Co-Occurring Heterozygous <i>CNOT3</i> and <i>SMAD6</i> Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype

by Priolo Manuela, Radio Francesca Clementina, Pizzi Simone, Pintomalli Letizia, Pantaleoni Francesca, Mancini Cecilia, Cordeddu Viviana, Africa Emilio, Mammì Corrado, Dallapiccola Bruno, Tartaglia Marco
Published 2021-06-01