Article
Molecular-clinical correlations in males with an expanded FMR1 mutation.
American journal of medical genetics - 9 Aug 1996
Merenstein S A, Sobesky W E, Taylor A K, Riddle J E, Tran H X, Hagerman R J
Abstract excerpt
Fragile X syndrome is caused by an expansion of a CGG repeat in the FMR1 gene. The CGG repeat number of the FMR1 mutation and the percentage of cells with methylation of the gene were studied in 218 male patients. Physical and cognitive measurements were also performed. Patients were divided into...
Topics
- Adolescent
- Adult
- Body Height
- Child
- Child, Preschool
- DNA Methylation
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Humans
- Infant
- Intelligence
- Male
- Middle Aged
- Mosaicism
- Mutation
- Nerve Tissue Proteins
- Physical Examination
- RNA-Binding Proteins