Associated Papers
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
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 RUNX2 variants associated with cleidocranial dysplasia.
Gao X et al.
Hereditas, 2019
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
RUNX2 analysis of Danish cleidocranial dysplasia families.
Hansen L et al.
Clinical Genetics, 2011
[Clinical and image features, and identification of pathogenic gene mutation of two cleidocranial dysplasia families].
Wang GX et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Ott CE et al.
Human Mutation, 2010
RUNX2 mutations in cleidocranial dysplasia patients.
Ryoo HM et al.
Oral Diseases, 2010
Perspectives on RUNX genes: an update.
Cohen MM
American Journal of Medical Genetics. Part A, 2009
RUNX2 mutations in Chinese patients with cleidocranial dysplasia.
Li Y et al.
Mutagenesis, 2009
[Cleidocranial dysplasia. Description and analysis of a patient cohort].
Baumert U et al.
Mund-, Kiefer- Und Gesichtschirurgie : Mkg, 2006
Clarification of data reported in "cleidocranial dysplasia: molecular genetic analysis and phenotypic-based description of a Middle European patient group" (AJMG 139A:78-85).
Baumert U et al.
American Journal of Medical Genetics. Part A, 2006
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
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.
Quack I et al.
American Journal of Human Genetics, 1999