Article
Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes
20 Jun 2019
Abstract excerpt
The limited accessibility of bone and its mineralized nature have restricted deep investigation of its biology. Recent breakthroughs in identification of mutant proteins affecting bone tissue homeostasis in rare skeletal diseases have revealed novel pathways involved in skeletal development and maintenance. The characterization of new dominant, recessive and X-linked forms of the rare brittle bone disease...
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