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Frints, Suzanna Gerarda Maria, Lenzner, Steffen, Turner, Gillian, Bauters, Mareike, Jensen, Lars Riff, Van Esch, Hilde, des Portes, Vincent, Moog, Ute, Macville, Merryn Victor Erik, van Roozendaal, Kees, Schrander-Stumpel, Constance Theresia Rimbertha Maria. Nature Publishing Group; 2008. MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.