Mutations of the Thyroid Hormone Transporter MCT8 Cause Prenatal Brain Damage and Persistent Hypomyelination

CONTEXT: Mutations in the MCT8 (SLC16A2) gene, encoding a specific thyroid hormone transporter, cause an X-linked disease with profound psychomotor retardation, neurological impairment, and abnormal serum thyroid hormone levels. The nature of the central nervous system damage is unknown. OBJECTIVE:...

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Pubblicato in:J Clin Endocrinol Metab
Autori principali: López-Espíndola, Daniela, Morales-Bastos, Carmen, Grijota-Martínez, Carmen, Liao, Xiao-Hui, Lev, Dorit, Sugo, Ella, Verge, Charles F., Refetoff, Samuel, Bernal, Juan, Guadaño-Ferraz, Ana
Natura: Artigo
Lingua:Inglês
Pubblicazione: Endocrine Society 2014
Soggetti:
JCEM Online: Advances in Genetics
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4255116/
https://ncbi.nlm.nih.gov/pubmed/25222753
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2014-2162
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