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Article

Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene.

The Journal of clinical endocrinology and metabolism - 1 Mar 1999

Salvatori R, Hayashida C Y, Aguiar-Oliveira M H, Phillips J A, Souza A H, Gondo R G, Toledo S P, Conceicão M M, Prince M, Maheshwari H G, Baumann G, Levine M A

Abstract excerpt

Isolated growth hormone (GH) deficiency (IGHD) is a rare cause of short stature. The same mutation of the gene encoding the growth hormone-releasing hormone receptor (GHRHR) has been identified as the basis for IGHD in three families from the Indian subcontinent. The prevalence and heterogeneity...

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Source

Identifiers

PMID: 10084571
DOI: 10.1210/jcem.84.3.5599

Genes

GHRHR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-10084571-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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