Associated Papers
The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.
Thaweesapphithak S et al.
Journal of Translational Medicine, 2024
39627759 (PubMed )
Supplement: 12967_2024_5904_MOESM1_ESM.xlsx › Supplement_table_1.
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides
Functional consequences of C-terminal mutations in RUNX2.
Thaweesapphithak S et al.
Scientific Reports, 2023
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.
Berkay EG et al.
American Journal of Medical Genetics. Part A, 2021
Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review.
Ma D et al.
Medicine, 2018
30095610 (PubMed )
Supplement: medi-97-e11328-s001.doc
Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.
Jaruga A et al.
Clinical Genetics, 2016
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Ott CE et al.
Human Mutation, 2010
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