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Article

[Molecular genetics of congenital isolated thyrotropin deficiency].

Nihon rinsho. Japanese journal of clinical medicine - 1 Apr 1994

Miyai K

Abstract excerpt

In 1971, the first case of congenital isolated thyrotropin (TSH) deficiency was reported by Miyai et al. Subsequently, the same group reported that the disease was caused by a missense mutation in the CAGYC region of the TSH-beta gene (substitution from G to A in exon 2 which altered the Gly29 [G...

Topics

Congenital Hypothyroidism
Exons
Female
Humans
Male
Mutation
Thyrotropin

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8196185

Genes

AGA
GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8196185-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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