Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2‐1‐Related Disorder
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DOI: 10.1002/mds.29280
Abstract: Heterozygous NKX2‐1 loss‐of‐function variants cause combinations of hyperkinetic movement disorders (MDs, particularly childhood‐onset chorea), pulmonary dysfunction, and hypothyroidism. Mobile element insertions (MEIs) are potential disease‐causing structural variants whose detection in routine diagnostics remains challenging. read more here.
Keywords: characterization novo; retrotransposition event; event causing; alu retrotransposition ... See more keywords