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Article

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

BMC pediatrics - 5 Apr 2022

Chen Xiaodan, Liu Li, Zeng Chunhua

Abstract excerpt

BACKGROUND: Allan-Herndon-Dudley syndrome (AHDS) is an X-linked recessive neurodegenerative disorder caused by mutations in the SLC16A2 gene that encodes thyroid hormone transporter. AHDS has been rarely reported in China. CASE PRESENTATION: This study reported a novel splicing mutation in the SLC16A2 gene in an 18-month-old male patient with AHDS. The patient was born to non-consanguineous, healthy parents of...

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Identifiers

PMID: 35382784
DOI: 10.1186/s12887-022-03259-5
PMCID: PMC8981932

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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