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Gene diagnostics of Axenfeld-Rieger syndrome

Average price: ≈141.1€
It is treated in 28 clinics
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Gene diagnostics of Axenfeld-Rieger syndrome

Description

 Генодиагностика синдрома Аксенфельда-Ригера связана с выявлением мутаций в одном или обоих известных генах, связанных с этим заболеванием. Мутации в гене PITX2 (локус 4q25) вызывают форму синдрома с глазными и системными проявлениями, в гене FOXC1 (локус 6p25) - только с глазными аномалиями. Пренатальная диагностика синдрома Аксенфельда-Ригера может быть проведена с использованием материнской крови, ворсинок хориона или околоплодных вод.
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