Superti-Furga A, Hästbacka J, Rossi A, et al. A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans. Ann N Y Acad Sci. 1996;785:195-201.

Hästbacka J, de la Chapelle A, Mahtani MM, et al. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell. 1994;78(6):1073-87.

Hästbacka J, Kerrebrock A, Mokkala K, et al. Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). Eur J Hum Genet. 1999;7(6):664-70. doi:10.1038/sj.ejhg.5200361.

Superti-Furga A, Hästbacka J, Wilcox WR, et al. Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet. 1996;12(1):100-2. doi:10.1038/ng0196-100.