1. Cerebro‐oculo‐facio‐skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2. Issue 3 (27th December 2020) Authors: Reunert, Janine; van den Heuvel, Alijda; Rust, Stephan; Marquardt, Thorsten Journal: American journal of medical genetics Issue: Volume 185:Issue 3(2021) Page Start: 930 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗