The Utility of Next Generation Sequencing in Gene Discovery for Mutation-negative Patients with Rett Syndrome

Rett syndrome (RTT) is a rare, severe disorder of neuronal plasticity that predominantly affects girls. Girls with RTT usually appear asymptomatic in the first 6-18 months of life, but gradually develop severe motor, cognitive and behavioural abnormalities that persist for life. A predominance of ne...

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Bibliographic Details
Main Authors: Wendy Anne Gold, John eChristodoulou
Format: Article
Language:English
Published: Frontiers Media S.A. 2015-07-01
Series:Frontiers in Cellular Neuroscience
Subjects:
Online Access:http://journal.frontiersin.org/Journal/10.3389/fncel.2015.00266/full