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Article

Genetic variants in the promoter region of the IGF-I gene as a reason for short stature.

Journal of pediatric endocrinology & metabolism : JPEM - 1 May 2006

Kedzia A, Obrepalska-Steplowska A, Pacholska-Bogalska J, Obara-Moszyńska M, Korman E, Goździcka-Józefiak A

Abstract excerpt

DNA obtained from the blood cells of 88 adolescent patients with short stature, with low blood serum IGF-I concentrations, normal growth hormone (GH) secretion and normal GH receptor (GHR) structure, was analyzed in the promoter region for the IGF-I gene. A total of 24 genetic variants was detected in the DNA of 13 patients. An attempt was also made to analyze the impact of identified mutations on DNA-protein...

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PMID: 16789640
DOI: 10.1515/jpem.2006.19.5.733

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GHR

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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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