Tuesday, January 8, 2019

Rett Syndrome: (OJNBD)- Lupine Publishers




Rett sindrome is a severe neuro developmental disorder that is a leading cause of mental retardation in females, characterized by an apparently normal psycho motor development through the first 6 months of life, followed by stagnation and growth regression in different are as like motor, language and social skills; patients often exhibitautistic behaviors in the early stages. Other symptoms include seizures, breathing problems when awake such as hyper ventilation, apnea, and swallowing air; ataxia and stereotypich and movements. It is caused by mutations in the X-linked gene encodingmethyl-CpG-binding protein 2 (MECP2) [1,2]. One case is presented with positive molecular study
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