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

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

Abstract 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 manag...

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Bibliographic Details
Main Authors: Sermporn Thaweesapphithak, Kittipat Termteerapornpimol, Siriwong Wongsirisuwan, Soranun Chantarangsu, Thantrira Porntaveetus
Format: Article
Language:English
Published: BMC 2024-12-01
Series:Journal of Translational Medicine
Subjects:
Cleidocranial dysplasia
Data
Genes
Humans
Mutation
Prevalence
Online Access:https://doi.org/10.1186/s12967-024-05904-2
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