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Article

Analysis of the human growth hormone receptor and IGF-I coding sequences in children with growth disorders.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2000

Obrepalska-Steplowska Aleksandra, Kedzia Andrzej, Goździcka-Józefiak Anna, Jakubowicz Małgorzata, Korman Eugeniusz

Abstract excerpt

Analysis of GHR and IGF-I coding sequences in 47 children with normal serum levels of GH, low IGF-I and growth disorders generally did not show mutation in the genes studied. Only one boy had a mutation located in the fifth exon of the GHR gene (C-->T in codon 88). This suggests that the growth disorders in this group of children might be due to a defect in a DNA region regulating expression of the GHR and IGF1...

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Source

Identifiers

PMID: 12948293
DOI: 10.1515/jpem.2003.16.6.819

Genes

GHR
IGF1

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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