skeleton
• the endocortical bone perimeter appears distinctly irregular at 6 and 12 months of age
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• at 6 but not at 12 months of age
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• at 3 and 6 months of age in the femurs and tibia
• phenotype is more pronounced at 6 months of age with an approximately 60% increase in bone volume
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• at 6 and 12 months of age
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• increase in femur and tibia trabecular number at 6 months of age but no change in trabecular thickness or total mineral density
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• expression analysis indicates increased levels of bone synthesis and resorption in femurs
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• levels of secreted, total and active TGFB in isolated rib chondrocyte cell cultures are reduced compared to wild-type controls
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homeostasis/metabolism
• serum levels of total TGFB1 are about 50% lower than in wild-type controls
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limbs/digits/tail
• the endocortical bone perimeter appears distinctly irregular at 6 and 12 months of age
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• at 6 but not at 12 months of age
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