TY  - JOUR
T1  - Multiple Hereditary Exostosis, EXT Genes, and Skeletal Development
AU  - Sandell, Linda J.
Y1  - 2009/07/01
N1  - 10.2106/JBJS.I.00391
JO  - The Journal of Bone & Joint Surgery
SP  - 58
EP  - 62
VL  - 91
IS  - Supplement_4
N2  - 
Research on the genetics of multiple hereditary exostosis over the past thirty years has been productive. Advances in the understanding of the disease have paralleled the methodological advances that have occurred in the field of molecular genetics. Initially, it was recognized that multiple hereditary exostosis is often inherited and that large families were available for genetic mapping. As techniques for gene mapping improved, regions of the chromosomes involved were identified, localized, and eventually subjected to DNA sequencing. The genes identified, the exostosins, were found to encode known enzymes whose function within the disease could be reasonably predicted. Mouse models were created, and the hypothesized function of these genes was verified. Many surprises were encountered along the way, which served to uncover important biological principles. The understanding of human multiple hereditary exostosis is a paradigm for the power of combining modern molecular biology, genetics, and clinical science.

SN  - 0021-9355
M3  - doi: 10.2106/JBJS.I.00391
UR  - http://dx.doi.org/10.2106/JBJS.I.00391
ER  -