Articles with "atp8a2" as a keyword



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Congenital ataxia due to novel variant in ATP8A2

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Published in 2021 at "Clinical Genetics"

DOI: 10.1111/cge.13954

Abstract: Congenital ataxias are a heterogeneous group of disorders characterized by congenital or early‐onset ataxia. Here, we describe two siblings with congenital ataxia, who acquired independent gait by age 4 years. After 16 years of follow‐up they presented… read more here.

Keywords: ataxia due; congenital ataxia; novel variant; due novel ... See more keywords