Now showing items 1-2 of 2

    • CHARGE syndrome: Genetic aspects and dental challenges, a review and case presentation 

      Chetty, Manogari; Roberts, Tina Sharon; Elmubarak, Mona (Springer Nature, 2020)
      CHARGE syndrome (CS) is a rare genetic condition (OMIM #214800). The condition has a variable phenotypic expression. Historically, the diagnosis of CHARGE syndrome was based on the presence of specific clinical criteria. ...
    • The evolution of the nosology of osteogenesis imperfecta 

      Chetty, Manogari; Roomaney, Imaan Amina; Beighton, Peter H. (Wiley-Blackwell, 2021)
      Osteogenesis imperfecta (OI) is a relatively common genetic skeletal disorder with an estimated frequency of 1 in 20 000 worldwide. The manifestations are diverse and although individually rare, the several different forms ...