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

Topics Community

Article

Heterozygous GHR gene mutation in a child with idiopathic short stature.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Mar 2014

Pagani Sara, Petkovic Vibor, Messini Beatrice, Meazza Cristina, Bozzola Elena, Mullis Primus-E, Bozzola Mauro

Abstract excerpt

Several monogenic defects have been reported to be associated with idiopathic short stature. Focusing on growth hormone receptor (GHR)-gene alterations, the heterozygosity of the same gene defect may be associated with a range of growth deficits. We found a heterozygous mutation (V144I) within exon 6 of the GHR gene in a patient with a low level of insulin-like growth factor I (IGF-I), normal level of GH, and...

Topics

Body Height
Child, Preschool
Female
HEK293 Cells
Heterozygote
Humans
Mutation
Receptors, Somatotropin

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 24150201
DOI: 10.1515/jpem-2013-0359

Genes

GHR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Heterozygous GHR gene mutation in a child with idiopathic short stature.PMID 24150201Read ↗

Growth hormone receptor mutations in children with idiopathic short stature.Semantic proximity Read ↗

Heterozygous mutations of growth hormone receptor gene in children with idiopathic short stature.Semantic proximity Read ↗

Growth hormone receptor sequence changes do not play a role in determining height in children with idiopathic short stature.Semantic proximity Read ↗

Heterozygosity for a mutation in the growth hormone-releasing hormone receptor gene does not influence adult stature, but affects body composition.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 ↗

Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-ISemantic proximity Read ↗

Growth hormone/IGF-I axis and growth hormone receptor mutations in idiopathic short stature.Semantic proximity Read ↗

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

Primary Growth Hormone (GH) Insensitivity and Insulin-Like Growth Factor Deficiency Caused by Novel Compound Heterozygous Mutations of the GH Receptor Gene: Genetic and Functional Studies of Simple and Compound Heterozygous StatesSemantic proximity Read ↗

A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome.Semantic proximity Read ↗

Short stature caused by a natural growth hormone antagonist.Semantic proximity Read ↗

Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature.Semantic proximity Read ↗

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