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

Different approaches in the molecular analysis of the SHOX gene dysfunctions.

Journal of endocrinological investigation - 1 Jun 2010

Stuppia L, Gatta V, Antonucci I, Giuliani R, Palka G

Abstract excerpt

Deficit of the short stature homeobox containing gene (SHOX) accounts for 2.15% of cases of idiopathic short stature (ISS) and 50-100% of cases of Leri-Weill dyschondrosteosis (LWD). It has been demonstrated that patients with SHOX deficit show a good response to treatment with GH. Thus, the earl...

Read the complete abstract on PubMed

Topics

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

Share to Dwarfism, Pituitary
Share to Enhancer Elements, Genetic
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Growth Disorders

Share to Homeodomain Proteins

Share to Nucleic Acid Amplification Techniques

Share to Osteochondrodysplasias

Share to Short Stature Homeobox Protein

Source

Identifiers

PMID: 21057183

Genes

SHOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21057183-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Different approaches in the molecular analysis of the SHOX gene dysfunctions.PMID 21057183Read ↗

Unexpected phenotype in a boy with trisomy of the SHOX gene.Semantic proximity Read ↗

Short stature due to SHOX deficiency: genotype, phenotype, and therapy.Semantic proximity Read ↗

Usefulness of MLPA in the detection of SHOX deletions.Semantic proximity Read ↗

Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short StatureSemantic proximity Read ↗

Clinical and genetic spectrum of SHOX deficiency: phenotypic heterogeneity and the "Jumping SHOX" phenomenon.Semantic proximity Read ↗

The SHOX gene: a new indication for GH treatment.Semantic proximity Read ↗

Novel heterozygous mutation in the SHOX gene leading to familial idiopathic short stature: A case report and literature review.Semantic proximity Read ↗

Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.Semantic proximity Read ↗

Genotypes and phenotypes of children with SHOX deficiency in France.Semantic proximity Read ↗

SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.Semantic proximity Read ↗

SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis.Semantic proximity Read ↗

The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects.Semantic proximity Read ↗

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