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Article

Hypotonic male infant and MCT8 deficiency - a diagnosis to think about.

BMC pediatrics - 4 Oct 2014

Rodrigues Filipa, Grenha Joana, Ortez Carlos, Nascimento Andrés, Morte Beatriz, M-Belinchón Monica, Armstrong Judith, Colomer Jaume

Abstract excerpt

BACKGROUND: Thyroid hormone is crucial in the development of different organs, particularly the brain. MCT8 is a specific transporter of triiodothyronine (T3) hormone and MCT8 gene mutations cause a rare X-linked disorder named MCT8 deficiency, also known as Allan-Herndon-Dudley syndrome, charact...

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Identifiers

PMID: 25284458
DOI: 10.1186/1471-2431-14-252
PMCID: PMC4287395

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25284458-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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