1. A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease. Issue 1 (16th January 2017) Authors: Chatron, N.; Lesca, G.; Labalme, A.; Rollat‐Farnier, P.A.; Monin, P.; Pichot, E.; Edery, P.; Sanlaville, D.; Rossi, M. Journal: Clinical genetics Issue: Volume 92:Issue 1(2017) Page Start: 112 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗