Article
A mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2 during long-bone development.
Proceedings of the National Academy of Sciences of the United States of America - 21 Mar 2006
Cobb John, Dierich Andrée, Huss-Garcia Yolande, Duboule Denis
Abstract excerpt
Deficiencies or mutations in the human pseudoautosomal SHOX gene are associated with a series of short-stature conditions, including Turner syndrome, Leri-Weill dyschondrosteosis, and Langer mesomelic dysplasia. Although this gene is absent from the mouse genome, the closely related paralogous gene Shox2 displays a similar expression pattern in developing limbs. Here, we report that the conditional inactivation...
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