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MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

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author: Jozef Gécz  Martine Raynaud  Vincent des Portes  Ute Moog  Gillian Turner  Hans van Bokhoven  Jean-Pierre Fryns  Hilde Van Esch 

Publication date April 9, 2008
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