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1997 | 51 | 4 | 399-419
Article title

Genetic background of Rett syndrome

Content
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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
Year
Volume
51
Issue
4
Pages
399-419
Physical description
References
Document Type
article
Publication order reference
A.T.Midro, ul. Chrobrego 5D, m. 29, 15-057 Bialstok, Poland
YADDA identifier
bwmeta1.element.element-from-psjc-f7f74ee3-2bd9-392e-a33c-59c5be25f8bb
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