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