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Description
Recent case reports have described patients with a dominant negative TR mutation, analogous to TR RTH mutations, with clinical features of short stature, developmental delay, bony deformities, and chronic constipation, but no impairment in TR-mediated processes (21, 258)
doi: 10.2165/00023210-200721001-00002

Nasser, M., Javaheri, H., Fedorowicz, Z., and Noorani, Z

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