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

Familial short stature is associated with a novel dominant-negative heterozygous insulin-like growth factor 1 receptor (IGF1R) mutation.

Clinical endocrinology - 1 Aug 2014

Kawashima Yuki, Hakuno Fumihiko, Okada Shin-ichi, Hotsubo Tomoyuki, Kinoshita Tomoe, Fujimoto Masanobu, Nishimura Rei, Fukushima Toshiaki, Hanaki Keiichi, Takahashi Shin-ichiro, Kanzaki Susumu

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Dwarfism
Share to Heterozygote

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

Share to Mutation

Share to Receptor, IGF Type 1

Source

Identifiers

PMID: 24033502
DOI: 10.1111/cen.12317

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial short stature is associated with a novel dominant-negative heterozygous insulin-like growth factor 1 receptor (IGF1R) mutation.PMID 24033502Read ↗

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

Familial short stature with IGF-I receptor gene anomaly [Review]Semantic proximity Read ↗

[Short stature with abnormal IGF I/IGF-I receptor system].Semantic proximity Read ↗

A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome.Semantic proximity Read ↗

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

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

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

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

Idiopathic Short Stature: What to Expect from Genomic InvestigationsSemantic proximity Read ↗

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