1. Rimoin, D.L. & Lachman, R.S. The Chondrodysplasias, in Principles and Practice of Medical Genetics, 2nd ed. (eds Emery, A.E.H. & Rimoin, D.L.) 835–932 (Churchill-Livingstone, New York, 1990).
2. Beighton, P. et al. International nosology of heritable disorders of connective tissue, Berlin, 1986. Am. J. med. Genet. 29, 581–594 (1988).
3. Vikkula, M., Metsaranta, M. & Ala-Kokko, L. Type II collagen mutations in rare and common cartilage diseases. Ann. Med. 26, 107–114 (1994).
4. Spranger, J., Winterpacht, A. & Zabel, B. The type II collagenopathies: a spectrum of Chondrodysplasias. Eur. J. Ped. 153, 56–65 (1994).
5. Murray, L.W., Bautista, J., James, P.L. & Rimoin, D.L. Type II collagen defects in the Chondrodysplasias. I. Spondyloepiphyseal dysplasias. Am. J. hum. Gene. 45, 5–15 (1989).