Associated Papers
Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis.
Cuellar A et al.
Bone, 2020
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
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Ott CE et al.
Human Mutation, 2010
Perspectives on RUNX genes: an update.
Cohen MM
American Journal of Medical Genetics. Part A, 2009
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
A stop codon mutation in the CBFA 1 gene causes cleidocranial dysplasia.
Tsai FJ et al.
Acta Paediatrica (oslo, Norway : 1992), 2000
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.
Quack I et al.
American Journal of Human Genetics, 1999
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.
Lee B et al.
Nature Genetics, 1997
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