1. Small patella syndrome: New clinical and molecular insights into a consistent phenotype. Issue 6 (9th November 2017) Authors: Vanlerberghe, C.; Jourdain, A.‐S.; Dieux, A.; Toutain, A.; Callewaert, B.; Dupuis‐Girod, S.; Unger, S.; Wright, M.; Isidor, B.; Ghoumid, J.; Petit, F.; Boutry, N.; Escande, F.; Manouvrier‐Hanu, S. Journal: Clinical genetics Issue: Volume 92:Issue 6(2017) Page Start: 676 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1‐mutated patient's management. Issue 1 (22nd February 2017) Authors: Colson, C.; Aubry, E.; Cartigny, M.; Rémy, A.‐A.; Franquet, H.; Leroy, X.; Kéchid, G.; Lefèvre, C.; Besson, R.; Cools, M.; Spinoit, A.F.; Sultan, C.; Manouvrier, S.; Philibert, P.; Ghoumid, J. Journal: Clinical genetics Issue: Volume 92:Issue 1(2017) Page Start: 99 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗