منابع مشابه
Rett syndrome: clinical and molecular update.
PURPOSE OF REVIEW New information on the clinical and molecular aspects of Rett syndrome has emerged at an accelerated pace since the identification of mutations in methyl-CpG-binding protein 2 gene (MECP2) was first reported in 1999. Recent reports not only present new insights into the clinical and molecular understanding of this unique disorder but also have important implications for the ne...
متن کامل[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 کاملMicrovascular abnormalities in Rett syndrome.
Rett syndrome (RTT) is a post-natal neurological disorder that represents the second most common cause for mental retardation. The presence of cold hands and feet, and blue, a feature frequently observed in these patients, is one of the non-neurological phenotypes that characterizes RTT, up to now not well explained. We have performed videocapillaroscopy in subjects affected by Rett syndrome. W...
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ژورنال
عنوان ژورنال: Folia Pharmacologica Japonica
سال: 2015
ISSN: 0015-5691,1347-8397
DOI: 10.1254/fpj.145.178