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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 assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and...

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.

Rett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these femal

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

This study investigated the relationships between fracture risk and commonly used AEDs 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

The prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management