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Heritable Disorders of Connective Tissue

The projects listed below involved elucidation of genetic disorders at the clinical and molecular levels, and form part of the research programme for 2012 of Emeritus Professor Peter Beighton. These endeavours are all collaborative and emphasis is placed upon capacity building. Each has potential for eventual translation into routine medical genetic practice.

The projects are as follows:

  • Foetal Dysmorphology (with Professor Helen Wainwright, Groote Schuur Hospital)
  • Ehlers-Danlos syndrome (with Dr Karen Fieggen)
  • Fibrodysplasia Ossificans Progressiva (with Dr Collet Dandara)
  • Osteolysis (with Drs Bertie & Thompson, Pietermaritzburg)