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Article

Three novel IGSF1 mutations in four Japanese patients with X-linked congenital central hypothyroidism.

The Journal of clinical endocrinology and metabolism - 1 Oct 2013

Nakamura Akie, Bak Beata, Silander Tanya L R, Lam Jessica, Hotsubo Tomoyuki, Yorifuji Toru, Ishizu Katsura, Bernard Daniel J, Tajima Toshihiro

Abstract excerpt

CONTEXT: Congenital central hypothyroidism (C-CH) is a rare disease. We investigated the molecular basis of unexplained C-CH in 4 Japanese boys. PATIENTS AND METHODS: C-CH was diagnosed by low free T4 and/or T3 and low basal TSH concentrations. We used whole-exome sequencing of one patient with C...

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Source

Identifiers

PMID: 23966245
DOI: 10.1210/jc.2013-1224

Genes

IGSF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23966245-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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