Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene - van Steensel, M A; Buma, P; de Waal Malefijt, M C; van den Hoogen, F H; Brunner, H G (Am J Med Genet, 1997)