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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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Autori principali: Fehr, Stephanie, Downs, Jenny, Bebbington, Ami, Leonard, Helen
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3906205/
https://ncbi.nlm.nih.gov/pubmed/20815036
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33640
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