Atypical Presentations and Specific Genotypes Are Associated With a Delay in Diagnosis in Females With Rett Syndrome

Atypical Presentations and Specific Genotypes Are Associated With a Delay in Diagnosis in Females With Rett Syndrome

There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors. We hypothesized that girls with an atypical presentation or whose family had a lower socio-economic status would receive a later diagnosis. Female su...

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Bibliographic Details
Main Authors: Fehr, S., Downs, Jennepher, Bebbington, A., Leonard, H.
Format: Journal Article
Published: John Wiley & Sons, Inc. 2010
Subjects:
symptom presentation
socio-economic status
Rett syndrome
age at diagnosis
MECP2
Online Access:http://hdl.handle.net/20.500.11937/47671

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