Article
[Developmental disorder in girls due to Rett syndrome].
Nederlands tijdschrift voor geneeskunde - 9 Aug 2003
Pruissen D M, Sinke R J, Terhal P A, Beemer F A, Peters A C
Abstract excerpt
Three girls with Rett syndrome are presented. Patients A and B had initially exhibited normal development, patient C showed severe developmental delay from birth on. In all three stereotypical hand movements arose which led to Rett syndrome being suspected. For patients A and B the clinical diagnosis was further supported by the identification of mutations in the MECP2-gene. In patient C, the mutation found...
Topics
- Child
- Chromosomal Proteins, Non-Histone
- DNA-Binding Proteins
- Developmental Disabilities
- Female
- Genotype
- Humans
- Methyl-CpG-Binding Protein 2
- Mutation
- Phenotype
- Repressor Proteins
- Rett Syndrome