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Article

Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib.

The Journal of clinical endocrinology and metabolism - 1 Jan 2001

Salvatori R, Fan X, Phillips J A, Espigares-Martin R, Martin De Lara I, Freeman K L, Plotnick L, Al-Ashwal A, Levine M A

Abstract excerpt

Isolated GH deficiency (IGHD) is familial in 5-30% of cases. The majority of patients have the type IB form, characterized by autosomal recessive transmission, low but measurable serum concentrations of GH, and responsiveness to exogenous GH therapy. Unique mutations in the gene encoding the GHRH...

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Source

Identifiers

PMID: 11232012
DOI: 10.1210/jcem.86.1.7156

Genes

GHRHR
GHRH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11232012-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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