Article
Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series.
The Journal of clinical endocrinology and metabolism - 23 Jan 2021
van Geest Ferdy S, Meima Marcel E, Stuurman Kyra E, Wolf Nicole I, van der Knaap Marjo S, Lorea Cláudia F, Poswar Fabiano O, Vairo Filippo, Brunetti-Pierri Nicola, Cappuccio Gerarda, Bakhtiani Priyanka, de Munnik Sonja A, Peeters Robin P, Visser W Edward, Groeneweg Stefan
Abstract excerpt
CONTEXT: Genetic variants in SLC16A2, encoding the thyroid hormone transporter MCT8, can cause intellectual and motor disability and abnormal serum thyroid function tests, known as MCT8 deficiency. The C-terminal domain of MCT8 is poorly conserved, which complicates prediction of the deleteriousness of variants in this region. We studied the functional consequences of 5 novel variants within this domain and their...
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