Clinical and molecular evaluation of 16 patients with Rett syndrome

Rett syndrome is a neurodevelopmental disorder caused by mutations in MECP2. The disease is characterized by early neurological regression following a normal initial development. The diagnosis is a clinical one, based on major and minor diagnostic criteria. This study, in a group of patients from a...

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Bibliographic Details
Main Authors: Pınar Zengin-Akkuş, Ekim Z Taşkıran, Serkan Kabaçam, Pelin Özlem Şimşek-Kiper, Göknur Haliloğlu, Koray Boduroğlu, Gülen Eda Utine
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2018-02-01
Series:The Turkish Journal of Pediatrics
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Online Access:https://turkjpediatr.org/article/view/807
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