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 born each year (and only rarely seen in boys), this genetic disorder ...
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 (RS) is an incurable neurological disorder that occurs in females. Although the biological basis is unknown, there is substantial evidence suggesting a genetic basis. RS is ...
A couple whose baby will never to speak or use her hands are "grieving all the firsts and experiences she'll potentially never have". Little Lily Sloan, 21 months, was diagnosed with rare Rett ...
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 ...
Claudio De Felice, Cinzia Signorini, Silvia Leoncini, Alessandra Pecorelli, Thierry Durand, Jean-Marie Galano, Valérie Bultel-Poncé, Alexandre Guy, Camille Oger, Gloria Zollo, Giuseppe Valacchi, Lucia ...
1 Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK 2 Department of Medical Biochemistry, University Hospital of Wales, Heath Park, Cardiff CF14 ...
Correspondence to: Dr A Renieri Associate Professor, Medical Genetics, University of Siena, Policlinico Le Scotte, viale Bracci 2, 53100, Siena, Italy; renieriunisi.it Rett syndrome (RTT; MIM# 312750) ...
DNA methylation has recently moved to centre stage in the aetiology of human neurodevelopmental syndromes such as the fragile X, ICF and Rett syndromes. These diseases result from the ...
The contribution of genetic components to the pathology of sleep disorders is increasingly recognised as important. Genetic studies have identified genes that may be important in the regulation of ...