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Article

Isolated growth hormone deficiency in Chilean patients: clinical and molecular analysis.

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

Molina Graciela, Rodriguez Adrián, Derpich Militza, Missarelli Claudio, Cassorla Fernando, Mericq Veronica, Carvallo Pilar

Abstract excerpt

Isolated growth hormone deficiency (IGHD) is a disorder that leads to short stature. It has been classified into types IA, IB, II and III. GH gene mutations and growth hormone releasing hormone (GHRH) receptor gene mutations have been described in patients with IGHD. We report here a clinical and molecular study of 27 Chilean patients with IGHD. We performed GH stimulation tests with GHRH and GHRP, and...

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Source

Identifiers

PMID: 14594175
DOI: 10.1515/jpem.2003.16.8.1143

Genes

GHRH

Provenance

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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