Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects - Munns, C F; Fahiminiya, S; Poudel, N; Munteanu, M C; Majewski, J; Sillence, D O; Metcalf, J P; Biggin, A; Glorieux, F; Fassier, F; Rauch, F; Hinsdale, M E (Am J Hum Genet, 2015)