COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia

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• Identification of genes and mutations in genetic skeletal diseases leads to improved diagnosis and counselling through an international clinical and DNA diagnostic network

  Michael Briggs (Participant), Kathryn Chapman (Participant), Paul Holden (Participant) & Gail Jackson (Participant)

  Impact: Health impacts, Economic impacts