Search Results - "Hashiguchi, Marina"

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    A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia by Hashiguchi, Marina, Monden, Yukifumi, Nozaki, Yasuyuki, Watanabe, Kazuki, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamagata, Takanori, Osaka, Hitoshi

    Published in Human genome variation (03-06-2022)
    “…TUBB4A gene variants cause dystonia type 4 and hypomyelination with atrophy of the basal ganglia and cerebellum. We report the case of a child with delayed…”
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    Journal Article