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Article

Heterozygosity for a mutation in the growth hormone-releasing hormone receptor gene does not influence adult stature, but affects body composition.

The Journal of clinical endocrinology and metabolism - 1 Jun 2007

Pereira Rossana M C, Aguiar-Oliveira Manuel H, Sagazio Alessia, Oliveira Carla R P, Oliveira Francielle T, Campos Viviane C, Farias Catarine T, Vicente Tábita A R, Gois Miburge B, Oliveira Joselina L M, Marques-Santos Celi, Rocha Ivina E S, Barreto-Filho José A S, Salvatori Roberto

Abstract excerpt

CONTEXT: Biallelic mutations in the GHRH receptor (GHRHR) gene (GHRHR) are a frequent cause of isolated GH deficiency (IGHD). Although heterozygous carriers of these mutations appear normal, we hypothesized that heterozygosity for a GHRHR mutation might be associated with a subclinical phenotype. METHODS: We studied members of a large Brazilian kindred with IGHD (Itabaianinha cohort) caused by a homozygous null...

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Source

Identifiers

PMID: 17356054
DOI: 10.1210/jc.2007-0092

Genes

GHRHR
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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