Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.

Nizon, M; Huber, C; DE LEONARDIS, Fabio; Merrina, R; Forlino, Antonella; Fradin, M; Tuysuz, B; Abu Libdeh, By; Alanay, Y; Albrecht, B; Al Gazali, L; Basaran, Sy; Clayton Smith, J; Désir, J; Gill, H; Greally, Mt; Koparir, E; van Maarle, Mc; Mackay, S; Mortier, G; Morton, J; Sillence, D; Vilain, C; Young, I; Zerres, K; Le Merrer, M; Munnich, A; Le Goff, C; Rossi, Antonio; Cormier Daire, V.