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

Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome.

Human mutation - 1 Oct 2000

Gastier J M, Berg M A, Vesterhus P, Reiter E O, Francke U

Abstract excerpt

Growth hormone insensitivity syndrome (GHIS; also known as Laron syndrome), is characterized by severe postnatal growth failure and normal growth hormone. The syndrome is frequently caused by point mutations in the growth hormone receptor gene (GHR). Here we report five families with GHIS and partial deletions of the GHR gene. The deletion breakpoints were sequenced and PCR-based diagnostic tests were developed....

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Exons
Share to Growth Disorders

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

Share to Infant

Share to Introns

Share to Receptors, Somatotropin

Share to Sequence Deletion

Share to Syndrome

Source

Identifiers

PMID: 11013443
DOI: 10.1002/1098-1004(200010)16:4<323::AID-HUMU5>3.0.CO;2-D

Genes

GHR

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

Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome.PMID 11013443Read ↗

Characterization of a noncontiguous gene deletion of the growth hormone receptor in Laron's syndrome.Semantic proximity Read ↗

Diverse growth hormone receptor gene mutations in Laron syndrome.Semantic proximity Read ↗

Severe growth hormone insensitivity (Laron syndrome) due to nonsense mutation of the GH receptor in brothers from Russia.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 ↗

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

Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome.Semantic proximity Read ↗

Nine novel growth hormone receptor gene mutations in patients with Laron syndrome.Semantic proximity Read ↗

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

Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180splice mutation in an oriental Jewish patient.Semantic proximity Read ↗

A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.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 (GH) insensitivity syndrome due to a GH receptor truncated after Box1, resulting in isolated failure of STAT 5 signal transduction.Semantic proximity Read ↗

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