Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series

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...

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Enregistré dans:
Détails bibliographiques
Publié dans:J Clin Endocrinol Metab
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2020
Sujets:
Clinical Research Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7823235/
https://ncbi.nlm.nih.gov/pubmed/33141165
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/clinem/dgaa795
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