Functional analysis of RUNX2 mutations in cleidocranial dysplasia: Novel insights into genotype-phenotype correlations

Keyphrases

• Functional Analysis 100%
• Genotype-phenotype Correlation 100%
• Cleidocranial Dysplasia 100%
• RUNX2 mutation 100%
• Runt-related Transcription Factor 2 (Runx2) 83%
• Short Stature 50%
• Runt Domain 50%
• Transactivation 33%
• Leukemia 33%
• Supernumerary Teeth 33%
• Missense mutation 16%
• Osteoblast 16%
• Dominant Negative 16%
• DNA Binding 16%
• Polymorphism 16%
• Autosomal Dominant 16%
• Heterozygous mutation 16%
• Missense 16%
• Protein Drug 16%
• Haploinsufficiency 16%
• Coding Region 16%
• Specific Transcription Factor 16%
• Frameshift 16%
• Splicing mutation 16%
• Mutational Analysis 16%
• Nonsense 16%
• Skeletal Disorders 16%
• Hypoplastic Clavicle 16%
• Small Loss 16%
• Fontanelle 16%
• RUNX1 mutation 16%

Biochemistry, Genetics and Molecular Biology

• Dysplasia 100%
• Genotype Phenotype Correlation 100%
• RUNX2 100%
• Body Height 50%
• Runt Domain 50%
• Transactivation 33%
• Missense Mutation 16%
• Osteoblast 16%
• Missense 16%
• Coding Region 16%
• DNA Binding 16%
• Autosomal Dominant Inheritance 16%
• Periostin 16%
• Haploinsufficiency 16%
• RUNX1 16%