1. Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2. Issue 1 (9th March 2021) Authors: Antonarakis, Stylianos E; Holoubek, Aleš; Rapti, Melivoia; Rademaker, Jesse; Meylan, Jenny; Iwaszkiewicz, Justyna; Zoete, Vincent; Wilson, Callum; Taylor, Juliet; Ansar, Muhammad; Borel, Christelle; Menzel, Olivier; Kuželová, Kateřina; Santoni, Federico A Journal: Human molecular genetics Issue: Volume 31:Issue 1(2022) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗