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- W3006844478 abstract "Abstract In this article, we review rare bone diseases belonging to all four major groups classified based on metabolic pathogenesis by The Skeletal Rare Diseases Working Group of the International Osteoporosis Foundation (IOF). Rare bone diseases occur due to abnormality in skeletal development, skeletal growth or skeletal homeostasis. Both genetic, as well as environmental factors, play a significant role in the pathophysiology of rare bone diseases. Several causative genetic mutations have been found using new genetic sequencing techniques. However, the clinical presentations vary from mild to severe; bone pain, bone fragility, joint laxity, nerve entrapments, soft tissue swelling, and involvement of other organ systems such as bone marrow, liver, and spleen. We highlighted 11 different rare bone diseases and elucidate the importance of further study for a better understanding of their pathophysiology, which will lead to new therapeutics." @default.
- W3006844478 created "2020-03-06" @default.
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- W3006844478 date "2020-01-01" @default.
- W3006844478 modified "2023-09-28" @default.
- W3006844478 title "Genetic Skeletal Disorders in Humans" @default.
- W3006844478 doi "https://doi.org/10.1016/b978-0-12-801238-3.62242-0" @default.
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