Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference23 articles.
1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
2. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
3. MECP2 mutations account for most cases of typical forms of Rett syndrome
4. The Methyl-CpG Binding Transcriptional Repressor MeCP2 Stably Associates with Nucleosomal DNA
5. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location
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