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Article

The growth hormone receptor (GHR) c.899dupC mutation functions as a dominant negative: insights into the pathophysiology of intracellular GHR defects.

The Journal of clinical endocrinology and metabolism - 1 Nov 2011

Derr Michael A, Aisenberg Javier, Fang Peng, Tenenbaum-Rakover Yardena, Rosenfeld Ron G, Hwa Vivian

Abstract excerpt

CONTEXT: GH insensitivity (GHI) is a condition characterized by pronounced IGF-I deficiency and severe short stature. We previously identified a novel compound heterozygous GH receptor (GHR) mutation, GHR:p.R229H/c.899dupC, in a patient presenting with GHI. The heterozygous p.R229H (prepeptide) variant was previously associated with GHI despite a lack of adequate functional studies. The novel heterozygous...

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Share to GHR gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Insulin-Like Growth Factor I

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Source

Identifiers

PMID: 21900382
DOI: 10.1210/jc.2011-1597

Genes

GHR
JAK2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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