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

Epidemiology of SHOX deficiency.

Journal of endocrinological investigation - 1 Jun 2010

Nicolosi A, Caruso-Nicoletti M

Abstract excerpt

Deletion of short stature homeobox-containing (SHOX) gene, in the pseudoautosomal region (PAR1) of X and Y chromosomes, is an important cause of short stature. Homozygous loss of SHOX results in the more severe Langer mesomelic dysplasia, while SHOX haploinsufficiency cause a wide spectrum of short stature phenotypes, including patients with Turner syndrome, Leri Weill dyschondrosteosis (LWD), and idiopathic...

Read the complete abstract on PubMed

Topics

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

Share to Gene Deletion
Share to SHOX gene
Share to Homeodomain Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mass Screening

Share to Mutation

Share to Prevalence

Share to Sex Characteristics

Share to Short Stature Homeobox Protein

Source

Identifiers

PMID: 21057178

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

Epidemiology of SHOX deficiency.PMID 21057178Read ↗

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

Short stature and dysmorphology associated with defects in the SHOX gene.Semantic proximity Read ↗

SHOX in short stature syndromes.Semantic proximity Read ↗

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

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

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

High incidence of SHOX anomalies in individuals with short stature.Semantic proximity Read ↗

The SHOX region and its mutations.Semantic proximity Read ↗

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

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

The role of the SHOX gene in the pathophysiology of Turner syndrome.Semantic proximity Read ↗

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

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