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Showing results for "rett"

Expanding the clinical picture of the MECP2 Duplication syndrome

People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndr…

Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome

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

Participate in Research

Participate in Rett syndrome Research AussieRett is the Australian Rett syndrome research study. We collect ... collect information on Australian ind…

Investigating genotype-phenotype relationships in Rett syndrome using an international data set

This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous fin…

The impact of having a sibling with an intellectual disability:parental perspectives in two disorders

This study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.

Equipment to support physical activity

great fun and very motivating for some persons with Rett syndrome. One of the benefits of treadmill ... experience the outdoors in new ways. Many per…

Visit to Shenzhen, China

Children's Hospital and the families from the Shenzhen Rett Syndrome Family Association. This is a wonderful ... opportunity to make links with those…