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Article

Isolated growth hormone (GH) deficiency due to compound heterozygosity for two new mutations in the GH-releasing hormone receptor gene.

Clinical endocrinology - 1 May 2001

Salvatori R, Fan X, Phillips J A, Prince M, Levine M A

Abstract excerpt

OBJECTIVE: Mutations in the GH releasing hormone receptor (GHRH-R) have recently been shown to cause autosomal recessive isolated GH deficiency (IGHD). Patients who are homozygous for GHRH-R mutations have a subnormal GH response to pharmacological agents that stimulate GH secretion and an appropriate response to exogenous GH therapy. We searched for mutations in the GHRH-R gene in a family in which two of three...

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Source

Identifiers

PMID: 11380500
DOI: 10.1046/j.1365-2265.2001.01273.x

Genes

GHRH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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