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

The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.

Journal of translational medicine - 3 Dec 2024

Thaweesapphithak Sermporn, Termteerapornpimol Kittipat, Wongsirisuwan Siriwong, Chantarangsu Soranun, Porntaveetus Thantrira

Abstract excerpt

Cleidocranial Dysplasia (CCD) is a rare genetic disorder characterized by skeletal abnormalities and dental anomalies, primarily caused by variants in the RUNX2 gene. Understanding the spectrum of RUNX2 variants and their effects on CCD phenotypes is crucial for accurate diagnosis and management strategies. This systematic review aimed to comprehensively analyze the genotypic and phenotypic spectra of RUNX2...

Topics

Join the communities discussing this publication.

Cleidocranial Dysplasia
Core Binding Factor Alpha 1 Subunit
RHD gene
RUNX2 gene
Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Variation

Source

Open in PubMed Open full text

Identifiers

PMID: 39627759
DOI: 10.1186/s12967-024-05904-2
PMCID: PMC11613773

Genes

RUNX2
RHD

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

The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.PMID 39627759Read ↗

Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations.Semantic proximity Read ↗

Correlation of RUNX2 Variants With Craniofacial-Dental Phenotypes in Cleidocranial Dysplasia.Semantic proximity Read ↗

New Genetic Variants of RUNX2 in Mexican Families Causes Cleidocranial DysplasiaSemantic proximity Read ↗

Molecular Genetics of Cleidocranial Dysplasia.Semantic proximity Read ↗

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.Semantic proximity Read ↗

Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.Semantic proximity Read ↗

Identification and Functional Characterization of a Novel De Novo RUNX2 Frameshift Mutation Associated With Cleidocranial DysplasiaSemantic proximity Read ↗

RUNX2 mutations in cleidocranial dysplasia patients.Semantic proximity Read ↗

Identification of a Novel Mutation in the Runt-Related Transcription Factor 2 Gene in a Chinese Family With Cleidocranial Dysplasia.Semantic proximity Read ↗

Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia.Semantic proximity Read ↗

Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.Semantic proximity Read ↗

Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia.Semantic proximity Read ↗

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