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

[Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment].

Arquivos brasileiros de endocrinologia e metabologia - 1 Jul 2008

Jorge Alexander A L, Nishi Mirian Y, Funari Mariana F A, Souza Silvia C, Arnhold Ivo J P, Mendonça Berenice B

Abstract excerpt

Studies involving patients with short stature and partial deletion of sex chromosomes identified SHOX gene in the pseudoautosomal region of the X and Y chromosomes. SHOX haploinsufficiency is an important cause of short stature in a diversity of clinical conditions. It explains 2/3 of short statu...

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 Dwarfism
Share to SHOX gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Homeobox

Share to Homeodomain Proteins

Share to Human Growth Hormone

Share to Phenotype

Share to Short Stature Homeobox Protein

Source

Identifiers

PMID: 18797583
DOI: 10.1590/s0004-27302008000500008

Genes

SHOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18797583-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment].PMID 18797583Read ↗

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

SHOX in short stature syndromes.Semantic proximity Read ↗

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

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

[From gene to disease; from SHOX to Lèri-Weill dyschondrosteosis, Turner syndrome and idiopathic short stature].Semantic proximity Read ↗

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

The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis.Semantic proximity Read ↗

Growth hormone therapy in patients with short stature homeobox-gene (SHOX) deficiency.Semantic proximity Read ↗

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

SHOX mutation as a rare disease: molecular diagnosis and growth hormone treatment supported by the Italian public health system.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.