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Research

Genetic Disorders of the Skeleton & Oro-facial Tissues

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 (funded by the NRF):

  • Osteogenesis Imperfecta in South Africa (with Ms. Alvera Vorster)
  • Simpson-Golani-Behmel Syndrome (withDr. Careni Pretorius (MMed candidate)
  • Dental Genetics (withProfessor L Stephen, UWC and Tina Roberts, UWC (PhD candidate)).