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Article

Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.

The Journal of clinical investigation - 1 Mar 1998

Pohlenz J, Rosenthal I M, Weiss R E, Jhiang S M, Burant C, Refetoff S

Abstract excerpt

A 12-yr-old hypothyroid girl was diagnosed at birth as athyreotic because her thyroid gland could not be visualized by isotope scanning. Goiter development due to incomplete thyrotropin suppression, a thyroidal radioiodide uptake of < 1%, and a low saliva to plasma ratio of 2.5 suggested iodide (...

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Identifiers

PMID: 9486973
DOI: 10.1172/JCI1504
PMCID: PMC508654

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-9486973-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.PMID 9486973Read ↗

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A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect.Semantic proximity Read ↗

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