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The internet is emerging as a valuable tool for scientists to gather data for critical research into rare diseases.
Our findings provide additional insight into the early clinical profile of Rett syndrome.
A Perth medical researcher responsible for major advancements in the understanding of the neurological disorder Rett syndrome has had her efforts recognised
The first comprehensive analysis of the clinical effects of genetic mutations involved in Rett syndrome
Rett syndrome is a pervasive neurological disorder with impaired gait as one criterion.
Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and scoliosis is a common co-morbidity. Spinal fusion may be recommended if...
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.
Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study.
This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome.
Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...