Associated Papers
New Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia.
Toral López J et al.
Biology, 2024
Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations.
Thaweesapphithak S et al.
Journal of Applied Oral Science : Revista Fob, 2022
Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report.
Inchingolo AD et al.
Medicina (kaunas, Lithuania), 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
Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.
Jaruga A et al.
Clinical Genetics, 2016
Core binding factor β of osteoblasts maintains cortical bone mass via stabilization of Runx2 in mice.
Lim KE et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015
A novel in-frame deletion of the RUNX2 gene causes a classic form of cleidocranial dysplasia.
Matsushita M et al.
Journal of Bone and Mineral Metabolism, 2014
Mutational analysis of RUNX2 gene in Chinese patients with cleidocranial dysplasia.
Zhang C et al.
Mutagenesis, 2010
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Ott CE et al.
Human Mutation, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Perspectives on RUNX genes: an update.
Cohen MM
American Journal of Medical Genetics. Part A, 2009
Novel RUNX2 mutations in Chinese individuals with cleidocranial dysplasia.
Zhang CY et al.
Journal of Dental Research, 2009
Unique disease heritage of the Dutch-German Mennonite population.
Orton NC et al.
American Journal of Medical Genetics. Part A, 2008
A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails.
Tang S et al.
Bmc Medical Genetics, 2007
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
Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin.
Wyckoff MH et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations.
Yoshida T et al.
American Journal of Human Genetics, 2002
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.
Otto F et al.
Human Mutation, 2002
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.
Zhou G et al.
Human Molecular Genetics, 1999