1. A severe case of Bosch–Boonstra–Schaaf optic atrophy syndrome with a novel description of coloboma and septo‐optic dysplasia, owing to a start codon variant in the NR2F1 gene. Issue 3 (17th November 2021) Authors: Gazdagh, Gabriella; Mawby, Rebecca; Self, Jay E.; Baralle, Diana Journal: American journal of medical genetics Issue: Volume 188:Issue 3(2022) Page Start: 900 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗