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The diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.

This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis.

This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic...

There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.

We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome

This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations

To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion.

Scoliosis is the most common orthopaedic complication of Rett syndrome. Parents of affected individuals are vital partners in the clinical management...

Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...