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

Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor (IGF1R).

The Journal of clinical endocrinology and metabolism - 1 Feb 2012

Fang Peng, Cho Yoon Hi, Derr Michael A, Rosenfeld Ron G, Hwa Vivian, Cowell Christopher T

Abstract excerpt

CONTEXT: IGF-I, essential for normal human growth in utero and postnatally, mediates its effects through the IGF-I receptor (IGF1R). More than nine heterozygous mutations, including one compound heterozygous mutation, of the IGF1R gene have been reported in patients with varying degrees of intrauterine and postnatal growth retardation. OBJECTIVE: The objective of the study was the analysis of the IGF1R gene in a...

Read the complete abstract on PubMed

Topics

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

Share to Dwarfism
Share to Fatal Outcome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HEK293 Cells

Share to Heterozygote

Share to Mutation, Missense

Share to Receptor, IGF Type 1

Share to Severity of Illness Index

Share to Siblings

Source

Identifiers

PMID: 22130793
DOI: 10.1210/jc.2011-2142

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor (IGF1R).PMID 22130793Read ↗

Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformationsSemantic proximity Read ↗

Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation.Semantic proximity Read ↗

Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene.Semantic proximity Read ↗

Molecular IGF-1 and IGF-1 receptor defects: from genetics to clinical management.Semantic proximity Read ↗

A Variable Degree of Intrauterine and Postnatal Growth Retardation in a Family with a Missense Mutation in the Insulin-Like Growth Factor I ReceptorSemantic proximity Read ↗

Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance.Semantic proximity Read ↗

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 ↗

A Heterozygous Mutation of the Insulin-Like Growth Factor-I Receptor Causes Retention of the Nascent Protein in the Endoplasmic Reticulum and Results in Intrauterine and Postnatal Growth RetardationSemantic proximity Read ↗

Short Stature Associated with a Novel Heterozygous Mutation in theInsulin-Like Growth Factor 1GeneSemantic proximity Read ↗

Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated with<i>IGF1</i>Mutation Demonstrates Its Critical Role in Growth and Brain DevelopmentSemantic proximity Read ↗

Disorders of IGFs and IGF-1R signaling pathways.Semantic proximity Read ↗

Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation.Semantic proximity Read ↗

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