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

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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… Click to show full abstract

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 extrapolates to a minimum of 225,000 people in the European Union, and this extensive burden in pain and disability leads to poor quality of life and high healthcare costs.

Keywords: pseudoachondroplasia multiple; epiphyseal dysplasia; genetics; molecular genetics; multiple epiphyseal; dysplasia molecular

Journal Title: Cartilage
Year Published: 2017

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