1. De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects. Issue 3 (21st December 2020) Authors: Martinez‐Delgado, Beatriz; Lopez‐Martin, Estrella; Lara‐Herguedas, Julián; Monzon, Sara; Cuesta, Isabel; Juliá, Miguel; Aquino, Virginia; Rodriguez‐Martin, Carlos; Damian, Alejandra; Gonzalo, Irene; Gomez‐Mariano, Gema; Baladron, Beatriz; Cazorla, Rosario; Iglesias, Gema; Roman, Enriqueta; Ros, P... Journal: American journal of medical genetics Issue: Volume 185:Issue 3(2021) Page Start: 877 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗