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Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.
Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian...
Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls.
To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).
Head, Child Disability
Senior Research Fellow
New guidelines a model for better management of rare conditions
A research collaboration between Australia and Israel has identified a genetic variation that influences the severity of symptoms in Rett syndrome.
Girls and young women with Rett syndrome are nearly four times more likely to suffer a fracture.
A new study has found that the genetic flaw responsible for Rett syndrome can strike males, even where there isn't a family history of the rare brain disorder.