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.
Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.
Hordyjewska-Kowalczyk E et al.
Clinical Genetics, 2019
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Ott CE et al.
Human Mutation, 2010
Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.
Cunningham ML et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2006
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.
Otto F et al.
Human Mutation, 2002
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