A mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2 during long-bone development

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A mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2 during long-bone development.

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 conditi...

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ژورنال

عنوان ژورنال: Proceedings of the National Academy of Sciences

سال: 2006

ISSN: 0027-8424,1091-6490

DOI: 10.1073/pnas.0510544103