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Down syndrome, also known as Trisomy 21, is one of the most common chromosome abnormalities in humans. It occurs when a child's cells end up with 47 chromosomes instead of the usual 46. Down syndrome causes intellectual disability and other physical and learning challenges.

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

New guidelines a model for better management of rare conditions

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.

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.