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Article

Analysis of the intracellular signalling domain of the human growth hormone receptor in children with idiopathic short stature.

Clinical endocrinology - 1 Apr 2000

Johnston L B, Pashankar F, Camacho-Hübner C, Savage M O, Clark A J

Abstract excerpt

OBJECTIVE: To investigate the hypothesis that intracellular, dominant-negative mutations of the growth hormone receptor (GHR) exist in children with idiopathic short stature (ISS) and partial growth hormone insensitivity (GHI). SUBJECTS: We studied 31 children aged 4.55-13.14 years with ISS (height </= -1.8 standard deviation scores, UK standards 1990). GH provocation tests (glucagon 15 microg kg-1 i.m.) excluded...

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Source

Identifiers

PMID: 10762289
DOI: 10.1046/j.1365-2265.2000.00940.x

Genes

GHR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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