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Rett-Syndrom Variante mit erhaltener Sprechfähigkeit

Das Rett-Syndrom ist eine x-chromosomal dominante Erkrankung des zentralen Nervensystem, die durch Mutationen im MECP2-Gen ausgelöst wird. Es existieren verschiedene allelische Varianten von Mutationen dieses Gens, so auch ein Rett-Syndrom mit erhaltener Sprechfähigkeit.

Gliederung

Rett-Syndrom
Atypisches Rett-Syndrom
MECP2
Rett-Syndrom Variante mit erhaltener Sprechfähigkeit
MECP2

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OMIM.ORG article

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Update: 14. August 2020
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