Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome - Cartault, F; Munier, P; Jacquemont, M L; Vellayoudom, J; Doray, B; Payet, C; Randrianaivo, H; Laville, J M; Munnich, A; Cormier-Daire, V (Eur J Hum Genet, 2015)