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⌂ /Medical services /Gene diagnosis of arthrogryposis (Freeman-Sheldon syndrome) /
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Gene diagnosis of arthrogryposis (Freeman-Sheldon syndrome) - clinics in the city «Москва»

Average price: ≈117€
It is treated in 57 clinics
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Gene diagnosis of arthrogryposis (Freeman-Sheldon syndrome)

Description

 Генодиагностика артрогрипоза (синдром Фримена-Шелдона) включает прямое секвенирование гена MYH3 и выявление наиболее частых мутаций. Ген MYH3 связан с кодированием тяжелой цепи миозина 3 скелетных мышц эмбриона. При его дефектах наблюдаются врожденные деформации конечностей, контрактуры суставов и лицевых мышц, которые характеризуют дистальный артрогрипоз 2А типа.
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