Article
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.
American journal of human genetics - 1 Jul 2005
Schwartz Charles E, May Melanie M, Carpenter Nancy J, Rogers R Curtis, Martin Judith, Bialer Martin G, Ward Jewell, Sanabria Javier, Marsa Silvana, Lewis James A, Echeverri Roberto, Lubs Herbert A, Voeller Kytja, Simensen Richard J, Stevenson Roger E
Abstract excerpt
Allan-Herndon-Dudley syndrome was among the first of the X-linked mental retardation syndromes to be described (in 1944) and among the first to be regionally mapped on the X chromosome (in 1990). Six large families with the syndrome have been identified, and linkage studies have placed the gene locus in Xq13.2. Mutations in the monocarboxylate transporter 8 gene (MCT8) have been found in each of the six families....
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