1. Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. Issue 1 (1st January 2003) Authors: Ballhausen, D; Bonafé, L; Terhal, P; Unger, S L; Bellus, G; Classen, M; Hamel, B C; Spranger, J; Zabel, B; Cohn, D H; Cole, W G; Hecht, J T; Superti-Furga, A Journal: Journal of medical genetics Issue: Volume 40:Issue 1(2003) Page Start: 65 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗