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