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Article

Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene.

Hormone research - 1 Jan 2007

Hwa Vivian, Camacho-Hübner Cecilia, Little Brian M, David Alessia, Metherell Lou A, El-Khatib Nesrin, Savage Martin O, Rosenfeld Ron G

Abstract excerpt

BACKGROUND/AIMS: Growth hormone insensitivity (GHI) is characterized by severe short stature, high serum growth hormone (GH), low serum IGF-I and IGFBP-3 levels and is classically associated with genetic defects of the GH receptor (GHR). Recently, mutations of the STAT5b gene have been identified and shown to be associated with GHI and severe IGF deficiency. We investigated 2 sisters from a consanguineous family...

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Source

Identifiers

PMID: 17389811
DOI: 10.1159/000101334

Genes

GHR

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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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