Orthopedic manifestations of type I Camurati-Engelmann disea
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Camurati-Engelmann disease (CED) is a rare genetic skeletal disorder characterized by limb pain, muscle emaciation and weakness, and cortical thickening of the diaphysis of long bones. It is caused by mutations in the transforming growth factor beta 1 (TGFB1) (type I) or other unknown gene(s) (type II). We present 8 consecutive patients with type I CED.

https://www.ecios.org/search.php?where=aview&id=10.4055/cios.2017.9.1.109&code=0157CIOS&vmode=FULL
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