Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: Molecular Genetics, Disease Mechanisms and Therapeutic Targets

• Published in: Cartilage pp. 135 - 153
• Main Authors: Briggs, Michael D., Bell, Peter, Piróg, Katarzyna A.
• Format: Book Chapter
• Language: English
• Published: Switzerland Springer International Publishing AG 2017; Springer International Publishing
• Subjects: Cartilage Oligomeric Matrix Protein; Endochondral Ossification; Genetic Modifier; Growth Plate; Orthopaedics & fractures; Pathology; Physiology; Unfold Protein Response

Genetic skeletal diseases (GSDs) are a diverse and complex group of over 450 rare diseases that affect the development and homoeostasis of the skeleton. Although individually rare, as a group of related genetic skeletal diseases, they have an overall prevalence of at least 1 per 4000 children, which...