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Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically.
To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).
Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls.
Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian...
This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian...
Scoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis.
Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).
This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...
This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.
Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.