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Article

A novel C-terminal growth hormone receptor (GHR) mutation results in impaired GHR-STAT5 but normal STAT-3 signaling.

The Journal of clinical endocrinology and metabolism - 1 Jan 2005

Tiulpakov Anatoly, Rubtsov Petr, Dedov Ivan, Peterkova Valentina, Bezlepkina Olga, Chrousos George P, Hochberg Ze'ev

Abstract excerpt

GH insensitivity (GHI) is an autosomal recessive disorder caused by defects in the GH receptor (GHR). In a 17-yr-old female with severe short stature and biochemical features of GHI, sequencing of GHR gene revealed a compound heterozygosity for two novel mutations: C83X and a G deletion at position 1776 (1776del). 1776del is predicted to result in GHR truncation to 581 amino acids with a nonsense sequence of...

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Source

Identifiers

PMID: 15536163
DOI: 10.1210/jc.2003-2133

Genes

GHR
STAT3

Variants

Provenance

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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