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Article

A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect.

The Journal of clinical endocrinology and metabolism - 1 Sept 1999

Kosugi S, Bhayana S, Dean H J

Abstract excerpt

We previously reported nine children with an autosomally recessive form of congenital hypothyroidism due to an iodide transport defect in a large Hutterite family with extensive consanguinity living in central Canada. Since the original report, we have diagnosed congenital hypothyroidism by newborn TSH screening in 9 additional children from the family. We performed direct sequencing of the PCR products of each...

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Source

Identifiers

PMID: 10487695
DOI: 10.1210/jcem.84.9.5971

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AGA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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