If you haven't heard of Rett syndrome, it's probably because it's very rare. Affecting an estimated one in 12,000 baby girls ...
1 Program in Developmental Biology, the Hospital for Sick Children, Toronto, Canada 2 Western Sydney Genetics Program, the Royal Alexandra Hospital for Children, Sydney, and Discipline of Paediatrics ...
Rett syndrome is a neurodevelopmental disorder that primarily affects girls, most of whom have mutations in the transcription regulatory gene MECP2. However, mutations in MECP2 also have been ...
Rett syndrome is a unique and severe postnatal neurological disorder which mainly affects mostly girls. However, it may rarely affect boys. This condition is generally discovered during the first two ...
Rett syndrome is a sporadic disorder (except for a few familial cases) occurring in 1 in 10,000 to 1 in 23,000 girls worldwide. It is associated with profound mental and motor handicap. About 90% ...
A recent collaborative study has discovered rare variants in the YKT6 gene as the cause of a new neurological disorder characterized by developmental delays along with severe progressive liver ...
1 Centre for Child Health Research, The University of Western Australia, Telethon Institute for Child Health Research, Perth, Western Australia 2 Curtin University of Technology, Perth, Western ...
With the FDA’s first approval for a treatment for Rett syndrome now under its belt, Daybue maker Acadia Pharmaceuticals has debuted its latest effort to raise awareness around the rare disease.
THE final annual 127-mile walk to help people with a rare neurological disorder has raised more than £3,500. The arduous Walk for Estelle along the full length of the Leeds and Liverpool Canal was ...