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

Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors.

The Journal of bone and joint surgery. American volume - 21 Dec 2011

Pedrini Elena, Jennes Ivy, Tremosini Morena, Milanesi Annamaria, Mordenti Marina, Parra Alessandro, Sgariglia Federica, Zuntini Monia, Campanacci Laura, Fabbri Nicola, Pignotti Elettra, Wuyts Wim, Sangiorgi Luca

Abstract excerpt

BACKGROUND: Multiple hereditary exostoses is an autosomal dominant skeletal disorder characterized by wide variation in clinical phenotype. The aim of this study was to evaluate whether the severity of the disease is linked with a specific genetic background. METHODS: Five hundred and twenty-nine...

Read the complete abstract on PubMed

Topics

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

Share to Confidence Intervals
Share to Exostoses, Multiple Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exostosin 1

Share to Exostosin 2

Share to Germ-Line Mutation

Share to Multivariate Analysis

Share to N-Acetylglucosaminyltransferases

Share to Statistics, Nonparametric

Source

Identifiers

PMID: 22258776
DOI: 10.2106/JBJS.J.00949

Genes

EXT1
EXT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22258776-2026-09-04.2. 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

Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors.PMID 22258776Read ↗

Hereditary Multiple Exostoses—A Review of the Molecular Background, Diagnostics, and Potential Therapeutic StrategiesSemantic proximity Read ↗

A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients.Semantic proximity Read ↗

Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments.Semantic proximity Read ↗

The genotype-phenotype correlation of hereditary multiple exostoses.Semantic proximity Read ↗

Hereditary multiple exostoses: anatomical distribution and burden of exostoses is dependent upon genotype and gender.Semantic proximity Read ↗

Genotype-phenotype correlation in hereditary multiple exostoses.Semantic proximity Read ↗

Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years.Semantic proximity Read ↗

Clinical outcome and genotype in patients with hereditary multiple exostoses.Semantic proximity Read ↗

Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing.Semantic proximity Read ↗

Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses.Semantic proximity Read ↗

Hereditary Multiple Exostoses: a review of clinical appearance and metabolic patternSemantic proximity Read ↗

Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study.Semantic proximity Read ↗

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