A. Superti-Furga
Division of Metabolic and Molecular Diseases
University Children's Hospital
Zurich
Switzerland
Name/email consistency: high
- Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. Superti-Furga, A., Neumann, L., Riebel, T., Eich, G., Steinmann, B., Spranger, J., Kunze, J. J. Med. Genet. (1999)
- Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping". Superti-Furga, A., Tenconi, R., Clementi, M., Eich, G., Steinmann, B., Boltshauser, E., Giedion, A. Am. J. Med. Genet. (1998)