Achondroplasia: Difference between revisions
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== Definition/Description == | == Definition/Description == | ||
Achondroplasia is a rare congenital disease which predominantly affects the long bones of the body. Most cases are from an autosomal dominant inherited fibroblast growth factor receptor-''3'' (''FGFR3'') gene which has been mutated. "In endochondral bone development, the mutation increases the firbroblast growth factor receptor-''3'' signaling, which interferes with chondrocyte proliferation and differentiation, adversely affecting the epiphysial (growth) plates."< | Achondroplasia is a rare congenital disease which predominantly affects the long bones of the body. Most cases are from an autosomal dominant inherited fibroblast growth factor receptor-''3'' (''FGFR3'') gene which has been mutated. "In endochondral bone development, the mutation increases the firbroblast growth factor receptor-''3'' signaling, which interferes with chondrocyte proliferation and differentiation, adversely affecting the epiphysial (growth) plates."<sup>1</sup> <br> | ||
== Prevalence == | == Prevalence == |
Revision as of 03:58, 5 April 2011
Original Editors - Nora Richardson from Bellarmine University's Pathophysiology of Complex Patient Problems project.
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Definition/Description[edit | edit source]
Achondroplasia is a rare congenital disease which predominantly affects the long bones of the body. Most cases are from an autosomal dominant inherited fibroblast growth factor receptor-3 (FGFR3) gene which has been mutated. "In endochondral bone development, the mutation increases the firbroblast growth factor receptor-3 signaling, which interferes with chondrocyte proliferation and differentiation, adversely affecting the epiphysial (growth) plates."1
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