Article
Panostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANK.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Apr 2014
Schafer Anne L, Mumm Steven, El-Sayed Ivan, McAlister William H, Horvai Andrew E, Tom Andrea M, Hsiao Edward C, Schaefer Frederick V, Collins Michael T, Anderson Mark S, Whyte Michael P, Shoback Dolores M
Abstract excerpt
Precise regulation of bone resorption is critical for skeletal homeostasis. We report a 32-year-old man with a panostotic expansile bone disease and a massive hemorrhagic mandibular tumor. Originally from Mexico, he was deaf at birth and became bow-legged during childhood. There was no family history of skeletal disease. Puberty occurred normally, but during adolescence he experienced difficulty straightening his...
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