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

STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability.

European journal of endocrinology - 1 Sept 2015

Scalco Renata C, Hwa Vivian, Domené Horacio M, Jasper Héctor G, Belgorosky Alicia, Marino Roxana, Pereira Alberto M, Tonelli Carlos A, Wit Jan M, Rosenfeld Ron G, Jorge Alexander A L

Abstract excerpt

CONTEXT AND OBJECTIVE: GH insensitivity with immune dysfunction caused by STAT5B mutations is an autosomal recessive condition. Heterozygous mutations in other genes involved in growth regulation were previously associated with a mild height reduction. Our objective was to assess for the first time the phenotype of heterozygous STAT5B mutations. METHODS: We genotyped and performed clinical and laboratory...

Read the complete abstract on PubMed

Topics

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

Share to Body Height
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eczema

Share to Heterozygote

Share to Lung Diseases, Interstitial

Share to Pedigree

Share to STAT5 Transcription Factor

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 26034074
DOI: 10.1530/EJE-15-0398
PMCID: PMC4898761

Genes

SDS
IGF1
IGFBP3

Variants

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

STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability.PMID 26034074Read ↗

Clinical and Biochemical Characteristics of a Male Patient with a Novel Homozygous STAT5b MutationSemantic proximity Read ↗

STAT5b deficiency: lessons from STAT5b gene mutations.Semantic proximity Read ↗

Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene.Semantic proximity Read ↗

STAT5B deficiency: Impacts on human growth and immunity.Semantic proximity Read ↗

Growth hormone secretion and immunological function of a male patient with a homozygous STAT5b mutation.Semantic proximity Read ↗

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.Semantic proximity Read ↗

A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings.Semantic proximity Read ↗

Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system.Semantic proximity Read ↗

Genetic short stature.Semantic proximity Read ↗

A Novel Missense Mutation in the SH2 Domain of the<i>STAT5B</i>Gene Results in a Transcriptionally Inactive STAT5b Associated with Severe IGF-I Deficiency, Immune Dysfunction, and Lack of Pulmonary DiseaseSemantic proximity Read ↗

[STAT5B deficiency: a new growth hormone insensitivity syndrome associated to immunological dysfunction].Semantic proximity Read ↗

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

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