Diastrophic dysplasia gene maps to the distal long arm of chromosome 5.

por Hästbacka, J, Kaitila, I, Sistonen, P, de la Chapelle, A
Publicado 1990

RFLPs in the fibroblast growth factor receptor-4 locus (FGFR4) in 5q33-qter

por Armstrong, E., Hästbacka, J., Partanen, J., Huebner, K., Alitalo, K.
Publicado 1991

Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers.

por Hästbacka, J, Salonen, R, Laurila, P, de la Chapelle, A, Kaitila, I
Publicado 1993

Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.

por Hästbacka, J., Superti-Furga, A., Wilcox, W. R., Rimoin, D. L., Cohn, D. H., Lander, E. S.
Publicado 1996

Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22.

por Lehesjoki, A E, Koskiniemi, M, Sistonen, P, Miao, J, Hästbacka, J, Norio, R, de la Chapelle, A
Publicado 1991

A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia

por Bonafé, L, Hästbacka, J, de la Chapelle, A, Campos-Xavier, A B, Chiesa, C, Forlino, A, Superti-Furga, A, Rossi, A
Publicado en J Med Genet (2008)