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Therefore, we wanted to compare the features of girls and women with a C-terminal deletion with those with other MECP2 mutations.

This study used information from international Rett syndrome database to investigate the relationship between clinical characteristics and different mutations.

One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.

We compared information on the life expectancy of Dr Rett's original group in 1966 with information in the Australian Rett Syndrome Database.

In order to help doctors and families reduce the risk of fractures, we developed clinical guidelines for managing bone health in Rett syndrome.

We investigated the occurrence of different types of hand stereotypies and whether they were more frequent in one hand or the other.

We investigated the occurrence of altered pain sensitivity as well as how these altered reactions to pain were observed during daily life.

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A research collaboration between Australia and Israel has identified a genetic variation that influences the severity of symptoms in Rett syndrome.

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New guidelines a model for better management of rare conditions

Be involved in the Sibling Snapshot Project! Researchers from The Kids Research Institute Australia are conducting research which explores the unique