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Article

Novel Variants in the SLC16A2 Gene Associated With Allan-Herndon-Dudley Syndrome in China.

Human mutation - 1 Jan 2026

Li Wei, Sun Zijia, Wu Xiao, Lu Fen, Zhou Qiaoli, Zhang Xiaoqin, Zhu Min

Abstract excerpt

Objective: This study is aimed at investigating the genetic defects and clinical features of Chinese children with SLC16A2 variants and at exploring the effects of mutant MCT8 on protein expression and subcellular localization through in vitro experiments. Methods: Children with intellectual disability and abnormal serum thyroid hormone levels were screened using whole-exome sequencing (WES). We collected...

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Identifiers

PMID: 42147817
DOI: 10.1155/humu/3319748
PMCID: PMC13179716

Genes

SLC16A2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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