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Article

A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3.

American journal of medical genetics. Part A - 1 May 2015

Langley Katherine G, Trau Steven, Bean Lora J H, Narravula Alekhya, Schrier Vergano Samantha A

Abstract excerpt

Allan-Herndon-Dudley syndrome (AHDS, MIM 300523) is an X-linked neurodegenerative disorder characterized by intellectual disability, severe hypotonia, diminished muscle mass, and progressive spastic paraplegia. All affected males have pathognomonic thyroid profiles with an elevated T3 , low-normal free T4 , and normal TSH. Mutations in the monocarboxylate transporter 8 (MCT8) gene, SLC16A2, have been found to be...

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Identifiers

PMID: 25755011
DOI: 10.1002/ajmg.a.36970

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3.PMID 25755011Read ↗

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