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For pregnant Aboriginal women living in WA’s East Pilbara, significant issues systematically impede their pregnancy journey and a safe and healthy start to life for their babies.
In this The Kids Research Institute Australia subsite, our Rett syndrome research team manages a national and international database of Rett syndrome.
We investigated the factors that may affect the age at diagnosis for girls and woman with Rett syndrome.
We used multiplex ligation-dependent probe amplification to examine the MECP2 gene sequences in 149 girls and 1 boy.
Novel findings in relation to genotype
Using information from the Australian Rett Syndrome study, we examined the frequency of a range of sleep issues and variation by agegroup or gene abnormalities.