Publications by authors named "M A Jerdonek"
Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.
Ment Retard Dev Disabil Res Rev
September 2002
Article Synopsis
- Rett syndrome is a neurodevelopmental disorder primarily affecting girls, characterized by normal early development followed by regression in communication and motor skills, alongside distinct hand movements.
- Recent findings reveal that most cases are linked to mutations in the MeCP2 gene, which plays a crucial role in gene expression regulation by binding to specific DNA sequences.
- The clinical presentation of Rett syndrome varies significantly, influenced by factors like random X-inactivation and the specific type of MeCP2 mutation, leading to differences in severity and symptoms among affected individuals.