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Article

Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene.

Molecular medicine (Cambridge, Mass.) - 1 Jan 2000

Hilal Latifa, Hajaji Yassir, Vie-Luton Marie-Pierre, Ajaltouni Zeina, Benazzouz Bouchra, Chana Maha, Chraïbi Adelmajid, Kadiri Abdelkrim, Amselem Serge, Sobrier Marie-Laure

Abstract excerpt

Isolated growth hormone deficiency (IGHD) may be of genetic origin. One of the few genes involved in that condition encodes the growth hormone releasing hormone receptor (GHRHR) that, through its ligand (GHRH), plays a pivotal role in the GH synthesis and secretion by the pituitary. Our objective is to describe the phenotype of two siblings born to a consanguineous union presenting with short stature (IGHD) and...

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Source

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Identifiers

PMID: 18297129
DOI: 10.2119/2007-00128.Hilal
PMCID: PMC2249753

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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