Articles with "iba57 mutation" as a keyword



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Teaching NeuroImage: IBA57 Mutation–Associated Infantile Cavitating Leukoencephalopathy

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Published in 2022 at "Neurology"

DOI: 10.1212/wnl.0000000000200671

Abstract: A 14-month-old child, born of nonconsanguineous parentage, with normal early development till 1 year of age, presented with psychomotor regression. Examination revealed developmental age of 3 months and bipyramidal signs. Brain MRI (Figures 1 and… read more here.

Keywords: neuroimage iba57; iba57 mutation; mutation associated; cavitating leukoencephalopathy ... See more keywords