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Genodiagnostics of atelosteogenesis (dysplasia de la Chapelle)

Average price: ≈240.8€
It is treated in 138 clinics
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Genodiagnostics of atelosteogenesis (dysplasia de la Chapelle)

Description

 Генодиагностика ателостеогенеза (дисплазия де ла Шапеля) состоит из изучения мутаций в гене SLC26A2, лежащих в основе ателостеогенеза II типа. Ген SLC26A2 кодирует белок, несущий сульфат-ионы, и при его дефектах неправильно происходит эмбриональное формирование костно-хрящевой системы - дети рождаются с множественными аномалиями скелета и дефектами внутренних органов. Типы ателостеогенеза I и III связаны с мутациями в гене FLNB.
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