Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene.

The Journal of clinical endocrinology and metabolism - 1 Feb 1998

Netchine I, Talon P, Dastot F, Vitaux F, Goossens M, Amselem S

Abstract excerpt

GH secretion and release are complex phenomena depending on activation of several genes, including those encoding GH, GHRH, and its receptor (GHRH-R). The GH gene, which is the most extensively analyzed sequence in patients with familial GH deficiency (GHD), represents the main known target of mutations. To test the involvement of the GHRH-R gene in this disease phenotype, we investigated one candidate Tamoulean...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to PRL gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Insulin-Like Growth Factor I

Share to Magnetic Resonance Imaging

Share to Mutation

Share to Pedigree

Share to Phenotype

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 9467553
DOI: 10.1210/jcem.83.2.4528

Genes

GHRH
PRL

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene.PMID 9467553Read ↗

Molecular and clinical aspects of GHRH receptor mutations.Semantic proximity Read ↗

Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh.Semantic proximity Read ↗

Diseases associated with growth hormone-releasing hormone receptor (GHRHR) mutations.Semantic proximity Read ↗

Growth hormone releasing hormone receptor.Semantic proximity Read ↗

Genetics of GHRH, GHRH-receptor, GH and GH-receptor: its impact on pharmacogenetics.Semantic proximity Read ↗

Mutations in the growth hormone releasing hormone receptor: a new form of dwarfism in humans.Semantic proximity Read ↗

Partial Loss of Function of the GHRH Receptor Leads to Mild Growth Hormone Deficiency.Semantic proximity Read ↗

Familial growth hormone deficiency with mutated GHRH receptor gene: clinical and hormonal findings in homozygous and heterozygous individuals from Itabaianinha.Semantic proximity Read ↗

Disruption of the GHRH receptor and its impact on children and adults: The Itabaianinha syndrome.Semantic proximity Read ↗

Growth hormone releasing hormone receptor (GHRH-r) gene mutation in Indian children with familial isolated growth hormone deficiency: a study from western India.Semantic proximity Read ↗

A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.Semantic proximity Read ↗

Growth Hormone Receptor Mutations Related to Individual Dwarfism.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.