1. Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. Issue 8 (1st August 1999) Authors: Superti-Furga, Andrea; Neumann, Luitgard; Riebel, Thomas; Eich, Georg; Steinmann, Beat; Spranger, Jürgen; Kunze, Jürgen Journal: Journal of medical genetics Issue: Volume 36:Issue 8(1999) Page Start: 621 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH. Issue 6 (1st June 2001) Authors: Tönnies, Holger; Stumm, Markus; Neumann, Luitgard; Volleth, Marianne; Grumpelt, Uta; Müsebeck, Jörg; Annuss, Gisela; Neitzel, Heidemarie Journal: Journal of medical genetics Issue: Volume 38:Issue 6(2001) Page Start: e21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗