1. Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability. Issue 10 (18th August 2020) Authors: Pacio Miguez, Marta; Santos‐Simarro, Fernando; García‐Miñaúr, Sixto; Velázquez Fragua, Ramón; del Pozo, Ángela; Solís, Mario; Jiménez Rodríguez, Carmen; Rufo‐Rabadán, Virginia; Fernandez, Victoria Eugenia; Rueda, Inmaculada; Gomez del Pozo, Maria Victoria; Gallego, Natividad; Lapunzina, Pablo; Pa... Journal: American journal of medical genetics Issue: Volume 182:Issue 10(2020) Page Start: 2222 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗