1. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral–facial–digital syndrome with short stature and brachymesophalangia. Issue 6 (29th April 2016) Authors: Thevenon, J.; Duplomb, L.; Phadke, S.; Eguether, T.; Saunier, A.; Avila, M.; Carmignac, V.; Bruel, A.‐L.; St‐Onge, J.; Duffourd, Y.; Pazour, G.J.; Franco, B.; Attie‐Bitach, T.; Masurel‐Paulet, A.; Rivière, J.‐B.; Cormier‐Daire, V.; Philippe, C.; Faivre, L.; Thauvin‐Robinet, C. Journal: Clinical genetics Issue: Volume 90:Issue 6(2016) Page Start: 509 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗