Rett Syndrome Female Phenotypes
نویسندگان
چکیده
منابع مشابه
Rett syndrome – biological pathways leading from MECP2 to disorder phenotypes
Rett syndrome (RTT) is a rare disease but still one of the most abundant causes for intellectual disability in females. Typical symptoms are onset at month 6-18 after normal pre- and postnatal development, loss of acquired skills and severe intellectual disability. The type and severity of symptoms are individually highly different. A single mutation in one gene, coding for methyl-CpG-binding p...
متن کاملThe spectrum of phenotypes in females with Rett Syndrome.
Since the discovery of mutations in the methyl-CpG binding protein-2 (MECP2) gene in Rett Syndrome (RTT) a large number of females have been diagnosed worldwide. In this article we present the clinical and developmental data of 120 RTT females with mutations in the MECP2 gene and individually describe typical and atypical cases. We found a broad spectrum of phenotypes in females. At the severes...
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...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2003
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-17-9-6