Article
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.
Human mutation - 1 Mar 2017
Novara Francesca, Groeneweg Stefan, Freri Elena, Estienne Margherita, Reho Paolo, Matricardi Sara, Castellotti Barbara, Visser W Edward, Zuffardi Orsetta, Visser Theo J
Abstract excerpt
Mutations in the thyroid hormone transporter SLC16A2 (MCT8) cause the Allan-Herndon-Dudley Syndrome (AHDS), characterized by severe psychomotor retardation and peripheral thyrotoxicosis. Here, we report three newly identified AHDS patients. Previously documented mutations were identified in probands 1 (p.R271H) and 2 (p.G564R), resulting in a severe clinical phenotype. A novel mutation (p.G564E) was identified in...
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