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

Growth hormone insensitivity syndrome caused by a heterozygous GHR mutation: phenotypic variability owing to moderation by nonsense-mediated decay.

Clinical endocrinology - 1 May 2012

Gorbenko del Blanco Darya, de Graaff Laura C G, Visser Theo J, Hokken-Koelega Anita C S

Abstract excerpt

OBJECTIVES: Growth hormone insensitivity syndrome (GHIS) is characterized by extreme short stature and resistance to the actions of growth hormone (GH). The heterogeneity ranges from the most severe form, known as Laron syndrome, to less severe phenotypes like idiopathic short stature and partial GH insensitivity. Here, we aimed to identify and characterize the molecular cause of severe short stature in a patient...

Read the complete abstract on PubMed

Topics

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

Share to Body Height
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Fibroblasts

Share to Human Growth Hormone

Share to Insulin-Like Growth Factor Binding Protein 3

Share to Insulin-Like Growth Factor I

Share to Nonsense Mediated mRNA Decay

Share to Receptors, Somatotropin

Source

Identifiers

PMID: 22117696
DOI: 10.1111/j.1365-2265.2011.04304.x

Genes

GHR
SDS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Growth hormone insensitivity syndrome caused by a heterozygous GHR mutation: phenotypic variability owing to moderation by nonsense-mediated decay.PMID 22117696Read ↗

Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay.Semantic proximity Read ↗

The spectrum of growth-hormone insensitivity.Semantic proximity Read ↗

Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature.Semantic proximity Read ↗

Growth hormone insensitivity: pathophysiology, diagnosis, clinical variation and future perspectives.Semantic proximity Read ↗

A Novel, Heterozygous, de novo Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor, and Causing a Mild Short Stature.Semantic proximity Read ↗

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

[GH receptor gene mutations and growth failure].Semantic proximity Read ↗

Molecular basis of inherited growth hormone resistance in childhood.Semantic proximity Read ↗

Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I DeficiencySemantic proximity Read ↗

Novel compound heterozygous mutations of growth hormone (GH) receptor gene in a patient with GH insensitivity syndrome.Semantic proximity Read ↗

A novel GHR intronic variant, c.266+83G>T , activates a cryptic 5' splice site causing severe GHR deficiency and classical GH insensitivity syndrome.Semantic proximity Read ↗

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

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