Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues.

Abstract excerpt

For the vast majority of the 6000 known rare disease the pathogenic mechanisms are poorly defined and there is little treatment, leading to poor quality of life and high healthcare costs. Genetic skeletal diseases (skeletal dysplasias) are archetypal examples of rare diseases that are chronically debilitating, often life-threatening and for which no treatments are currently available. There are more than 450...

Topics

• Endoplasmic Reticulum Stress
• Extracellular Matrix Proteins
• Humans
• Mutation
• Osteochondrodysplasias
• Quality of Life