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Article

Mutations in the growth hormone releasing hormone receptor: a new form of dwarfism in humans.

Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society - 1 Jun 1999

Baumann G

Abstract excerpt

We describe a recently identified new form of dwarfism due to isolated growth hormone (GH) deficiency, secondary to inactivating mutations in the GH-releasing hormone receptor (GHRHR) gene. The identical nonsense mutations in the extracellular domain of the GHRHR (E72X or E50X, depending on whether the signal peptide is included in the numbering) has been independently described in three families residing on or...

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Share to Mice, Mutant Strains
Share to Receptors, Neuropeptide

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10549302
DOI: 10.1016/s1096-6374(99)80077-x

Genes

GHRHR

Variants

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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