1. Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities. Issue 5 (20th January 2016) Authors: Thauvin‐Robinet, C.; Duplomb‐Jego, L.; Limoge, F.; Picot, D.; Masurel, A.; Terriat, B.; Champilou, C.; Minot, D.; St‐Onge, J.; Kuentz, P.; Duffourd, Y.; Thevenon, J.; Rivière, J.‐B.; Faivre, L. Journal: Clinical genetics Issue: Volume 89:Issue 5(2016) Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗