Related Experiment Video

Updated: Sep 28, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report

Xiaodan Chen1, Li Liu2, Chunhua Zeng3

  • 1Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Rd, 510623, Guangzhou, China.

BMC Pediatrics
|April 6, 2022
PubMed
Abstract

Keywords:
Allan-Herndon-Dudley syndromeSLC16A2Splicing variantThyroid hormone

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