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Article

A functional common polymorphism in the vitamin D-responsive element of the GH1 promoter contributes to isolated growth hormone deficiency.

The Journal of clinical endocrinology and metabolism - 1 Mar 2008

Giordano Mara, Godi Michela, Mellone Simona, Petri Antonella, Vivenza Daniela, Tiradani Luigi, Carlomagno Yari, Ferrante Daniela, Arrigo Teresa, Corneli Ginevra, Bellone Simonetta, Giacopelli Francesca, Santoro Claudio, Bona Gianni, Momigliano-Richiardi Patricia

Abstract excerpt

CONTEXT: Causal mutations have been detected only in a minority of isolated GH deficiency (IGHD) patients. Idiopathic IGHD might be the result of the interaction between several low-penetrance genetic factors and the environment. OBJECTIVE: The aim of this study was to test the contribution to IGHD of genetic variations in the GH1 gene regulatory regions. DESIGN AND PATIENTS: A case-control association study was...

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Identifiers

PMID: 18160466
DOI: 10.1210/jc.2007-1918

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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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