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Neuropediatrics 1995; 26(2): 88-89
DOI: 10.1055/s-2007-979733
Genetics and metabolism

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Current Status of Genetic Research in Rett Syndrome

M. Anvret, Z. P. Zhang
  • Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden
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Publikationsdatum:
19. April 2007 (online)

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Abstract

Rett syndrome is a progressive neurological developmental syndrome. Evidences for a genetic transmission, but no conclusive data which entirely support the X chromosome involvement, exist. The chromosomal region 11p14-pter has been investigated with polymorphic markers and genes in the region have been sequenced. No sequence divergencies were detected.

Key words

Rett syndrome - X chromosome - Autosomal locus