Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants

Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants

Mutations in the cell membrane thyroid hormone (TH) transporter monocarboxylate transporter (MCT) 8 produce severe neuropsychomotor defects and characteristic thyroid function test (TFT) abnormalities. Two children with mild neurological phenotypes and normal TFTs were found to harbor MCT8 gene vari...

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Bibliographic Details
Main Authors:	Jiao Fu, Manassawee Korwutthikulrangsri, Leigh Ramos-Platt, Tyler M. Pierson, Xiao Hui Liao, Samuel Refetoff, Roy E. Weiss, Alexandra M. Dumitrescu
Other Authors:	The First Hospital of Xian Jiaotong University
Format:	Article
Published:	2020
Subjects:	Biochemistry, Genetics and Molecular Biology Medicine
Online Access:	https://repository.li.mahidol.ac.th/handle/123456789/53581
Tags:	Add Tag No Tags, Be the first to tag this record!
Institution:	Mahidol University

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