Search

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).

Improving the lives of children with a disability and their families sits at the core of our team.

This study explored relationships between speech and language abilities in girls with Rett syndrome and how they may be affected by the type of genetic mutation

We interviewed 17 parents with a daughter with Rett syndrome to gain their perspectives on how their daughter communicates and barriers.

We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.

We investigated the factors that may affect the age at diagnosis for girls and woman with Rett syndrome.

For this study, we examined how Rett syndrome characteristics can be affected by X-inactivation for 2 of the common types of mutation - p.R168X and p.T158M.

We used multiplex ligation-dependent probe amplification to examine the MECP2 gene sequences in 149 girls and 1 boy.