1. Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56. (31st March 2021) Authors: Legrand, A.; Pujol, C.; Durand, C. M.; Mesnil, A.; Rubera, I.; Duranton, C.; Zuily, S.; Sousa, A. B.; Renaud, M.; Boucher, J. L.; Pietrancosta, N.; Adham, S.; Orssaud, C.; Marelli, C.; Casali, C.; Ziccardi, L.; Villain, N.; Ewenczyk, C.; Durr, A.; Mignot, C. Journal: Journal of internal medicine Issue: Volume 289:Number 5(2021) Page Start: 709 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller‐Gerold syndromes. (26th March 2014) Authors: Piard, J.; Aral, B.; Vabres, P.; Holder‐Espinasse, M.; Mégarbané, A.; Gauthier, S.; Capra, V.; Pierquin, G.; Callier, P.; Baumann, C.; Pasquier, L.; Baujat, G.; Martorell, L.; Rodriguez, A.; Brady, A. F.; Boralevi, F.; González‐Enseñat, M. A.; Rio, M.; Bodemer, C.; Philip, N. Journal: Clinical genetics Issue: Volume 87:Number 3(2015:Mar.) Page Start: 244 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗