The Molecular Basis of Genetic Collagen Disorders and Its Clinical Relevance


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Abstract

Skeletal dysplasias are caused by mutations in genes that encode the collagen molecule family, including collagen type I, collagen type II, and collagen type IX.These entities, including osteogenesis imperfecta and Ehlers-Danlos syndrome, among others, are characterized by brittle bones, disorganized growth plates, and alterations of linear growth.Current treatments include pharmacological agents, including bisphosphonates, and surgical modalities such as spinal fusions and fracture fixation with intramedullary rods.Other treatments including cell and gene-based therapies remain in the experimental stages.

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