Article
The spectrum of phenotypes in females with Rett Syndrome.
Brain & development - 1 Aug 2003
Huppke Peter, Held Melanie, Laccone Franco, Hanefeld Folker
Abstract excerpt
Since the discovery of mutations in the methyl-CpG binding protein-2 (MECP2) gene in Rett Syndrome (RTT) a large number of females have been diagnosed worldwide. In this article we present the clinical and developmental data of 120 RTT females with mutations in the MECP2 gene and individually describe typical and atypical cases. We found a broad spectrum of phenotypes in females. At the severest end we have...
Topics
- Adolescent
- Aging
- Body Height
- Body Weight
- Child
- Child, Preschool
- Chromosomal Proteins, Non-Histone
- DNA Mutational Analysis
- DNA-Binding Proteins
- Epilepsy
- Evaluation Studies as Topic