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letter: a rare overgrowth disorder: sotos syndrome
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نویسنده
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sanlidag burcin ,dalkan ceyhun ,gali nilufer ,sahaloglu ozlem ,onder nerin bahceciler ,dirik eray
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منبع
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innovative journal of pediatrics - 2017 - دوره : 27 - شماره : 2 - صفحه:1 -2
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چکیده
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Dear editor, sotos syndrome (ss) is a rare childhood overgrowth condition that was first described in 1964 by sotos et al. it is an autosomal dominant syndrome with a birth prevalence of 7/100.000. sotos syndrome can be characterized by pre and postnatal accelerated growth with advanced bone age, developmental delay, distinctive facial features and macrocephaly. the diagnosis of the disease has always been based on clinical criteria, until more recently when genotyping has become an additional assessment tool for the diagnosis of the condition.
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کلیدواژه
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sotos syndrome ,rash ,nsd 1 mutation
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آدرس
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near east university, department of pediatrics, cyprus, near east university, department of pediatrics, cyprus, near east university, department of pediatrics, cyprus, near east university, department of pediatrics, cyprus, near east university, department of pediatrics, cyprus, near east university, department of pediatrics, cyprus
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Authors
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