Article
Rett syndrome: clinical and molecular characterization of two Brazilian patients.
Arquivos de neuro-psiquiatria - 1 Mar 2007
Stachon Andrea, Assumpção Francisco Baptista, Raskin Salmo
Abstract excerpt
BACKGROUND: Rett syndrome (RS) is recognized as a pan-ethnic condition. Since the identification of mutations in the MECP2 gene, more patients have been diagnosed, and a broad spectrum of phenotypes has been reported. There is a lack of phenotype-genotype studies. OBJECTIVE: To describe two cases of Brazilian patients with identified MECP2 mutations. METHOD: We present two female Brazilian patients with RS....
Topics
- Adult
- Child, Preschool
- Female
- Humans
- Male
- Methyl-CpG-Binding Protein 2
- Mutation
- Phenotype
- Rett Syndrome