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Article

Deletion of exon 1 of the SLC16A2 gene: a common occurrence in patients with Allan-Herndon-Dudley syndrome.

Thyroid : official journal of the American Thyroid Association - 1 Mar 2015

García-de Teresa Benilde, González-Del Angel Ariadna, Reyna-Fabián Miriam Erandi, Ruiz-Reyes María de la Luz, Calzada-León Raúl, Pérez-Enríquez Bernardo, Alcántara-Ortigoza Miguel Angel

Abstract excerpt

BACKGROUND: Allan-Herndon-Dudley syndrome (AHDS) is an X-linked type of mental retardation resulting from hindered thyroid hormone access to neurons. Clustered nonrecurrent deletions of SLC16A2 exon 1 have been described in three patients with AHDS. We report a fourth patient with such a deletion...

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Identifiers

PMID: 25517855
DOI: 10.1089/thy.2014.0284

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25517855-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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