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Article

Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma.

The Journal of clinical endocrinology and metabolism - 1 Mar 2010

Raef Hussein, Al-Rijjal Roua, Al-Shehri Sameerah, Zou Minjing, Al-Mana Hadeel, Baitei Essa Y, Parhar Ranjit S, Al-Mohanna Futwan A, Shi Yufei

Abstract excerpt

CONTEXT: Dyshormonogenesis due to genetic defect in thyroglobulin (Tg) synthesis and secretion can lead to congenital hypothyroidism. OBJECTIVES: The aim of the study was to analyze the TG gene for the presence of mutations and to study the underlying mechanisms leading to dyshormonogenesis. CASES: Two siblings aged 25 and 31 yr presented with recurrent goitrous hypothyroidism with undetectable serum Tg. The...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20089614
DOI: 10.1210/jc.2009-1823

Genes

BRAF
PAX8

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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