Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2‐1‐Related Disorder
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders"
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
Characterization of a de Novo Constitutional Balanced Translocation t (2;11)(q33.2;q23.2) with Break Point on the Human NBEAL1-GeneHo
Sign Up to like & getrecommendations! Published in 2018 at "Iranian Journal of Child Neurology"
DOI: 10.22037/ijcn.v12i1.15657
Abstract: Reciprocal balanced translocations associated with clinical features are very rare. This study reports cytogenetic and molecular cytogenetic findings in a 3-yr-old female patient with mild developmental retardation, slight hypotone with a de novo balanced 46,… read more here.
Keywords: characterization novo; translocation; q33 q23; human nbeal1 ... See more keywords