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

Gene Variants Characterize and Distinguish Osteochondromas in Patients With Hereditary Multiple Osteochondromas.

Journal of orthopaedic research : official publication of the Orthopaedic Research Society - 1 Jan 2026

Mundy Christina, Ramesh Sadhana, Kim Caroline, Talwar Divya, Pacifici Maurizio, Arkader Alexandre

Abstract excerpt

Hereditary Multiple Osteochondromas (HMO) is a rare, pediatric skeletal disorder characterized by osteochondromas that form along the growth plates. These benign tumors can cause skeletal deformities, joint dysfunction, chronic pain and other health problems. Most HMO patients are born with a heterozygous mutation in EXT1 or EXT2 that encode Golgi enzymes responsible for heparan sulfate synthesis. However, prior...

Topics

Join the communities discussing this publication.

Child
Child, Preschool
Exome Sequencing
Exostoses, Multiple Hereditary
Exostosin 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Loss of Heterozygosity

N-Acetylglucosaminyltransferases

Source

Identifiers

PMID: 41389159
DOI: 10.1002/jor.70113

Genes

EXT1
EXT2
TDG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Gene Variants Characterize and Distinguish Osteochondromas in Patients With Hereditary Multiple Osteochondromas.PMID 41389159Read ↗

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).Semantic proximity Read ↗

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

Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas.Semantic proximity Read ↗

Identification of a Novel EXT Mutation in A Kindred With Hereditary Multiple Exostoses Using Whole-Exome Sequencing and Overview of Mutation SpectrumSemantic proximity Read ↗

Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas.Semantic proximity Read ↗

Novel Mutations in Chinese Patients with Multiple Osteochondromas Identified Using Whole Exome Sequencing.Semantic proximity Read ↗

Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.Semantic proximity Read ↗

Biallelic inactivation of EXT1 in patient-derived iPSCs confirms the "Two-hit" hypothesis in hereditary multiple osteochondromas.Semantic proximity Read ↗

Novel mutation of EXT2 identified in a large family with multiple osteochondromas.Semantic proximity Read ↗

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

Multiple osteochondromas.Semantic proximity Read ↗

Millennium-old Pathogenic Mendelian Mutation Discovery for Multiple Osteochondromas from a Gaelic Medieval GraveyardSemantic proximity Read ↗

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