منابع مشابه
Correlations Between Linguistic Phenotype and Genetic Alterations in Rett Syndrome
Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in the MECP2 gene affecting around 1 in 10,000 female births. Clinical manifestations include severe linguistic and motor impairments that are the core of phenotype symptoms. Some patients show a moderate level of conservation of linguistic functions while others lose the use of functional verbal communication. This...
متن کامل[Rett syndrome].
REFERENCES 1. Caldwell MB, Rogers MF. Epidemiology of pediatrics HIV infection. Pediatr Clin North Am 1991,38:1-16. 2. Centers for Disease Control. HIV/AIDS Surveillance Report. April, 1990. 3. Jovaisas E, Koch M, Schafer A, et al. LAV, HTLV III in 20 week fetus. Lancet 1985, 2:1129. 4. Zeigler JB, Cooper DA, Johnson RO, et al. Postnatal transmission of AIDSassociated retovirus from a mother to...
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 کاملAlterations in the cholinergic system of brain stem neurons in a mouse model of Rett syndrome.
Rett syndrome is an autism-spectrum disorder resulting from mutations to the X-linked gene, methyl-CpG binding protein 2 (MeCP2), which causes abnormalities in many systems. It is possible that the body may develop certain compensatory mechanisms to alleviate the abnormalities. The norepinephrine system originating mainly in the locus coeruleus (LC) is defective in Rett syndrome and Mecp2-null ...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1989
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-3-9-8