The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation - Schreml, J; Durmaz, B; Cogulu, O; Keupp, K; Beleggia, F; Pohl, E; Milz, E; Coker, M; Ucar, S K; Nurnberg, G; Nurnberg, P; Kuhn, J; Ozkinay, F (Hum Genet, 2014)