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Article

An endoplasmic reticulum storage disease causing congenital goiter with hypothyroidism.

The Journal of cell biology - 1 May 1996

Kim P S, Kwon O Y, Arvan P

Abstract excerpt

In humans, deficient thyroglobulin (Tg, the thyroid prohormone) is an important cause of congenital hypothyroid goiter; further, homozygous mice expressing two cog/cog alleles (linked to the Tg locus) exhibit the same phenotype. Tg mutations might affect multiple different steps in thyroid hormone synthesis; however, the microscopic and biochemical phenotype tends to involve enlargement of the thyroid ER and...

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Identifiers

PMID: 8636228
DOI: 10.1083/jcb.133.3.517
PMCID: PMC2120816

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Source receipt: pubmed, retrieved 7 Sept 2026.

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An endoplasmic reticulum storage disease causing congenital goiter with hypothyroidism.PMID 8636228Read ↗

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