منابع مشابه
[Rett syndrome].
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متن کاملRett syndrome.
Rett syndrome is a progressive neurodegenerative disease of unknown etiology. Reported here are three children who presented with all clinical features of Rett syndrome. The aim of this presentation is to alert physicians to the existence of this progressive brain disease which only affects girls and so far no specific treatment has been suggested.
متن کاملRett Syndrome
Rett syndrome is an X-linked neurological disorder that is a leading cause of mental retardation among females. The progression of the disease consists of normal neonatal development followed by a regression period during which neurodevelopmental signs such as mental retardation and decline of motor abilities start to appear. The developmental progress of Rett patients is within normal range fo...
متن کاملEpilepsy in Rett syndrome--lessons from the Rett networked database.
OBJECTIVE Rett syndrome is an X-linked dominant neurodevelopmental disorder caused by mutations in the MECP2 gene, and characterized by cognitive and communicative regression, loss of hand use, and midline hand stereotypies. Epilepsy is a core symptom, but literature is controversial regarding genotype-phenotype correlation. Analysis of data from a large cohort should overcome this shortcoming....
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ژورنال
عنوان ژورنال: Nature Reviews Genetics
سال: 2014
ISSN: 1471-0056,1471-0064
DOI: 10.1038/nrg3719