Associated Papers
Identification of a novel nonsense SLC16A2 gene mutation in an infant with severe neurologic phenotype: A case report.
Peng W et al.
Medicine, 2024
Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities.
Filho HC et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2011
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
Frints SG et al.
European Journal of Human Genetics : Ejhg, 2008
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