Article
[Fragile X syndrome and FMR1-dependent diseases - clinical presentation, epidemiology and molecular background].
Developmental period medicine - 1 Jan 2000
Landowska Aleksandra, Rzońca Sylwia, Bal Jerzy, Gos Monika
Abstract excerpt
Fragile X syndrome (FXS) is the second most common inherited cause of intellectual disability (ID), after Down syndrome. The severity of ID in FXS patients varies and depends mainly on the patient's sex. Besides intellectual disorders, additional symptoms, such as psychomotor delay, a specific behavioral phenotype, or emotional problems are present in FXS patients. In over 99% of the cases, the disease is caused...
Topics
- Ataxia
- DNA Repeat Expansion
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Gene Expression Regulation
- Humans
- Male
- Mutation
- Primary Ovarian Insufficiency
- Tremor