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Article

A novel GHR intronic variant, c.266+83G>T , activates a cryptic 5' splice site causing severe GHR deficiency and classical GH insensitivity syndrome.

Hormone research in paediatrics - 1 Jan 2013

Feigerlova Eva, Swinyard Mike, Derr Michael A, Farnsworth Jeannie, Andrew Shayne F, Rosenfeld Ron G, Hwa Vivian

Abstract excerpt

BACKGROUND/AIMS: Mutations in the human growth hormone receptor gene (GHR) are the most common cause of growth hormone insensitivity (GHI) syndrome and insulin-like growth factor (IGF-1) deficiency. The extracellular domain of GHR (encoded by exons 2-7 of the GHR gene) can be proteolytically cleaved to circulate as GH-binding protein (GHBP). METHODS: We evaluated the cause of classical GHI (Laron) phenotypes in 3...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24296660
DOI: 10.1159/000355404

Genes

GHR
SDS

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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