相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Hypotonic male infant and MCT8 deficiency - a diagnosis to think about
Filipa Rodrigues et al.
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Clinical Course and Images of Four Familial Cases of Allan-Herndon-Dudley Syndrome With a Novel Monocarboxylate Transporter 8 Gene Mutation
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MCT8 Deficiency: Extrapyramidal Symptoms and Delayed Myelination as Prominent Features
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White matter changes in primary dystonia determined by 2D distribution analysis of diffusion tensor images
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Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging
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Genetics and phenomics of thyroid hormone transport by MCT8
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Chromosomal Microarray Interpretation: What Is a Child Neurologist to Do?
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Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8
Jurgen Jansen et al.
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Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter
Noriyuki Namba et al.
EUROPEAN JOURNAL OF PEDIATRICS (2008)
The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome
Charles E. Schwartz et al.
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X-linked MCT8 gene mutations:: Characterization of the pediatric neurologic phenotype
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A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene
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Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation
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