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

IGF1R mutations as cause of SGA.

Best practice & research. Clinical endocrinology & metabolism - 1 Feb 2011

Klammt J, Kiess W, Pfäffle R

Abstract excerpt

Until 2003 monogenetic aberrations that lead to a child that is born too small for gestational age (SGA) were poorly defined. With the first report of mutations within the insulin-like growth factor type 1 receptor (IGF1R) gene in two non-syndromic patients born SGA, who failed to thrive despite normal or even elevated IGF1 serum concentrations the concept of IGF1 resistance has been established. The...

Read the complete abstract on PubMed

Topics

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

Share to Developmental Disabilities
Share to Drug Resistance
Share to Human Growth Hormone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Infant, Small for Gestational Age

Share to Insulin-Like Growth Factor I

Share to Receptor, IGF Type 1

Share to Recombinant Proteins

Source

Identifiers

PMID: 21396585
DOI: 10.1016/j.beem.2010.09.012

Genes

IGF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

IGF1R mutations as cause of SGA.PMID 21396585Read ↗

[Mutations in insulin-like growth factor receptor 1 gene (IGF1R) resulting in intrauterine and postnatal growth retardation].Semantic proximity Read ↗

Mutations in GHR and IGF1R Genes as a Potential Reason for the Lack of Catch-Up Growth in SGA Children.Semantic proximity Read ↗

Single gene mutations causing SGA.Semantic proximity Read ↗

Novel heterozygous IGF1R mutation in two brothers with developing impaired glucose tolerance.Semantic proximity Read ↗

A Comprehensive Cohort Analysis Comparing Growth and GH Therapy Response in IGF1R Mutation Carriers and SGA Children.Semantic proximity Read ↗

Growth hormone deficiency (GHD) and small for gestational age (SGA): genetic alterations.Semantic proximity Read ↗

Genetic causes of growth hormone insensitivity beyond GHR.Semantic proximity Read ↗

Intronic IGF1R variant causing aberrant splicing, short stature, and neurological impairments.Semantic proximity Read ↗

Genetic IGF1R defects: new cases expand the spectrum of clinical features.Semantic proximity Read ↗

Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment.Semantic proximity Read ↗

Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment.Semantic proximity Read ↗

Polymorphisms and mutations in the GH-IGF axis in very short children born SGA due to IUGR, and the implications for the patients in childhood and adult life.Semantic proximity Read ↗

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