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Article

A mutation in Tpst2 encoding tyrosylprotein sulfotransferase causes dwarfism associated with hypothyroidism.

Molecular endocrinology (Baltimore, Md.) - 1 Jul 2007

Sasaki Nobuya, Hosoda Yayoi, Nagata Aogu, Ding Ming, Cheng Ji-Ming, Miyamoto Tomomi, Okano Shinya, Asano Atsushi, Miyoshi Ichiro, Agui Takashi

Abstract excerpt

The growth-retarded (grt) mouse has an autosomal recessive, fetal-onset, severe thyroid hypoplasia related to TSH hyporesponsiveness. Through genetic mapping and complementation experiments, we show that grt is a missense mutation of a highly conserved region of the tyrosylprotein sulfotransferas...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17456791
DOI: 10.1210/me.2007-0040

Genes

TPST2
TSHR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17456791-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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