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 (RTT) is unique among genetic, chromosomal and other developmental disorders because of its extreme female gender bias, early normal development, and subsequent developmental ...

[12] Females with such mutations may be completely normal or have clinical features ranging from mild learning disabilities, to Angelman syndrome, to autism and to RS. Females who appear normal or ...

Rett syndrome is caused by mutations to the gene MECP2, which is highly expressed in the brain and appears to play important roles in maintaining healthy neurons. The gene is located on the X ...

The patient died from complications linked to a rare hyperinflammatory syndrome associated with exposure to high doses of the AAV therapy delivery vehicle.

Rett syndrome is caused by mutations of the MECP2 gene located on the X chromosome. Children with Rett initially show typical development before symptoms start. The symptoms vary widely.

Though Rett syndrome is genetic, it isn't inherited from either parent. Instead, it's caused by a gene mutation. Children ...

Some patients have a mutation in the gene but not the disease. Others may have symptoms of Rett syndrome without the gene mutation. Joining Zoghbi for the Congress will be Dr. Daniel Glaze, professor ...

He established centers at UAB/Children’s and the Baylor College of Medicine in Texas. In 1999, a decade-long search for the genetic basis for Rett syndrome succeeded in identifying mutations in the ...

In 1999, we discovered that Rett syndrome is caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MECP2). Located on the X chromosome, MECP2 encodes a protein that binds methylated ...