XYLT1 mutations in Desbuquois dysplasia type 2 - Bui, C; Huber, C; Tuysuz, B; Alanay, Y; Bole-Feysot, C; Leroy, J G; Mortier, G; Nitschke, P; Munnich, A; Cormier-Daire, V (Am J Hum Genet, 2014)