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

Daniela López-Espíndola | Zendy; Carmen Morales-Bastos | Zendy; Carmen Grijota-Martínez | Zendy; Xiao-Hui Liao | Zendy; Dorit Lev | Zendy; Ella Sugo | Zendy; Charles F. Verge | Zendy; Samuel Refetoff | Zendy; Juan Bernal | Zendy; Ana GuadañoFerraz | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

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

Author(s) -

Daniela López-Espíndola,

Carmen Morales-Bastos,

Carmen Grijota-Martínez,

Xiao-Hui Liao,

Dorit Lev,

Ella Sugo,

Charles F. Verge,

Samuel Refetoff,

Juan Bernal,

Ana GuadañoFerraz

Publication year - 2014

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2014-2162

Subject(s) - endocrinology , medicine , thyroid , synaptophysin , calbindin , fetus , biology , pregnancy , immunohistochemistry , genetics

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.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research