Article
Mechanisms and models of endoplasmic reticulum stress in chondrodysplasia.
Developmental dynamics : an official publication of the American Association of Anatomists - 1 Jul 2014
Patterson Sara E, Dealy Caroline N
Abstract excerpt
Chondrodysplasias are a group of genetic disorders that affect the development and growth of cartilage. These disorders can result in extreme short stature, craniofacial defects, joint malformation, and early osteoarthritis; severely impacting quality of life for affected individuals. Many chondrodysplasias are caused by mutations in genes encoding cartilage extracellular matrix (ECM) proteins. These mutations...
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