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Developmentally delayed children with hand flapping and frequent paroxysms of laughter
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نویسنده
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mannan j. ,naveed m. ,kalim a.
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منبع
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pakistan paediatric journal - 2012 - دوره : 36 - شماره : 1 - صفحه:41 -44
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چکیده
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Case history of young couple who came for antenatal advice with their two children who were developmentally delayed,having hand flapping,frequent paroxysms of laughter and puppet like gait,these unique features were clue to diagnosis,their chromosome 15 study showed deletion in 15q11.2-q13 and confirmed diagnosis of angelman syndrome.
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آدرس
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department of pediatric medicine,fatima memorial hospital, Pakistan, department of pediatric medicine,fatima memorial hospital, Pakistan, department of pediatric medicine,fatima memorial hospital, Pakistan
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Authors
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