Treatable Hereditary Manganese Transport Disorder: Novel SLC30A10 Mutation and its Characteristic Neuroimaging Appearance in Two Siblings
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DOI: 10.1055/s-0040-1713853
Abstract: Hypermanganesemia with dystonia and polycythemia along with liver cirrhosis is a rare syndromic complex that is associated with a characteristic genetic mutation and a typical appearance in the T1-weighted noncontrast image. We report the neuroimaging… read more here.
Keywords: hereditary manganese; appearance; treatable hereditary; two siblings ... See more keywords