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Article

Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism.

The Journal of clinical endocrinology and metabolism - 1 Dec 2008

Afink Gijs, Kulik Willem, Overmars Henk, de Randamie Janine, Veenboer Truus, van Cruchten Arno, Craen Margarita, Ris-Stalpers Carrie

Abstract excerpt

CONTEXT: The recent cloning of the human iodotyrosine deiodinase (IYD) gene enables the investigation of iodotyrosine dehalogenase deficiency, a form a primary hypothyroidism resulting from iodine wasting, at the molecular level. OBJECTIVE: In the current study, we identify the genetic basis of dehalogenase deficiency in a consanguineous family. RESULTS: Using HPLC tandem mass spectrometry, we developed a rapid,...

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Source

Identifiers

PMID: 18765512
DOI: 10.1210/jc.2008-0865

Genes

IYD

Variants

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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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