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

Short stature and dysmorphology associated with defects in the SHOX gene.

Hormones (Athens, Greece) - 1 Jan 2000

Leka Sofia K, Kitsiou-Tzeli Sofia, Kalpini-Mavrou Ariadni, Kanavakis Emmanuel

Abstract excerpt

Since its discovery in 1997, knowledge about the SHOX gene ( Short stature HOmeoboX-containing gene) has rapidly advanced. Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for growth retardation in Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia and Turner syndrome. Furthermore, SHOX has a broad functional scope and leads to a variety of different...

Read the complete abstract on PubMed

Topics

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

Share to Bone Diseases, Developmental
Share to Dwarfism
Share to Growth Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to Osteochondrodysplasias

Share to Radiography

Share to Short Stature Homeobox Protein

Share to Turner Syndrome

Source

Identifiers

PMID: 16807223
DOI: 10.14310/horm.2002.11174

Genes

SHOX

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

Short stature and dysmorphology associated with defects in the SHOX gene.PMID 16807223Read ↗

SHOX at a glance: from gene to protein.Semantic proximity Read ↗

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

SHOX in short stature syndromes.Semantic proximity Read ↗

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

The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.Semantic proximity Read ↗

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

[Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment].Semantic proximity Read ↗

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.Semantic proximity Read ↗

Epidemiology of SHOX deficiency.Semantic proximity Read ↗

The human SHOX mutation database.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 ↗

<i>SHOX</i> haploinsufficiency and overdosage: impact of gonadal function statusSemantic proximity Read ↗

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