Genetic background of Rett syndrome

• Authors: A.T. Midro , B. Panasiuk
• Languages of publication: PL

Abstracts

EN

Current knowledge concerning the genetic background of Rett syndrome (RS) is reviewed. RS is a progressive neurological disorder causing severe mental retardation which appears to be limited to the female sex. The genetic defect responsible for the illness is not known and several different causative mechanisms i.e. X-linked dominant mutation, the two step mutation theory, mitochondrial DNA mutation, gonadal mosaicism, alternation in the X inactivation process, uniparental disomy of the X chromosome are reviewed.

Keywords

EN

RETT SYNDROME

Discipline

• EXPERIMENTAL_BIOLOGY_&_MEDICINE: EXPERIMENTAL BIOLOGY & MEDICINE

• Journal: Postępy Higieny i Medycyny Doświadczalnej
• Year: 1997
• Volume: 51
• Issue: 4
• Pages: 399-419

Contributors

author

A.T. Midro

author

B. Panasiuk

• Document Type: article
• Publication order reference: A.T.Midro, ul. Chrobrego 5D, m. 29, 15-057 Bialstok, Poland