T. Aberg, A. Cavender, J. S. Gaikwad, A. L. Bronckers, X. Wang et al., Phenotypic Changes in Dentition of Runx2 Homozygote-null Mutant Mice, Journal of Histochemistry & Cytochemistry, vol.124, issue.1, pp.131-140, 2004.
DOI : 10.1016/S0925-4773(02)00298-8

K. Avela, H. Hirvinen, B. Amor, M. Rauch, and F. , Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: First confirmation of a duplication in RUNX2 as pathogenic variant, European Journal of Medical Genetics, vol.57, issue.11-12, pp.617-620, 2014.
DOI : 10.1016/j.ejmg.2014.09.010

A. L. Bronckers, M. A. Engelse, A. Cavender, J. Gaikwad, and R. N. Souza, Cell-specific patterns of Cbfa1 mRNA and protein expression in postnatal murine dental tissues, Mechanisms of Development, vol.101, issue.1-2, pp.255-258, 2001.
DOI : 10.1016/S0925-4773(00)00562-1

URL : https://doi.org/10.1016/s0925-4773(00)00562-1

M. Bruderer, R. G. Richards, M. Alini, and M. J. Stoddart, Role and regulation of RUNX2 in osteogenesis, European Cells and Materials, vol.28, issue.28, pp.269-286, 2014.
DOI : 10.22203/eCM.v028a19

S. Camilleri and F. Mcdonald, Runx2 and dental development, European Journal of Oral Sciences, vol.4, issue.5, pp.361-373, 2006.
DOI : 10.1016/j.bbrc.2003.12.079

C. P. Chen, S. P. Lin, Y. P. Liu, S. R. Chern, P. S. Wu et al., 6p21.2???p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay, Gene, vol.523, issue.1, pp.99-102
DOI : 10.1016/j.gene.2013.03.121

C. Jr and M. M. , Perspectives on RUNX genes: an update, Am. J. Med. Genet, vol.149, pp.2629-2646, 2009.

P. Ducy, R. Zhang, V. Geoffroy, A. L. Ridall, and G. Karsenty, Osf2/Cbfa1: A Transcriptional Activator of Osteoblast Differentiation, Cell, vol.89, issue.5, pp.747-754, 1997.
DOI : 10.1016/S0092-8674(00)80257-3

URL : https://doi.org/10.1016/s0092-8674(00)80257-3

D. Souza, R. N. Aberg, T. Gaikwad, J. Cavender, A. Owen et al., Cbfa1 is required for epithelial-mesenchymal interactions regulating tooth development in mice, Development, vol.126, issue.13, pp.2911-2920, 1999.

M. R. Greives, E. A. Odessey, D. J. Waggoner, D. S. Shenaq, S. Aradhya et al., RUNX2 Quadruplication, Journal of Craniofacial Surgery, vol.24, issue.1, pp.126-129, 2013.
DOI : 10.1097/SCS.0b013e31826686d3

F. Halal, J. L. Picard, D. Raymond-tremblay, and P. De-bosset, Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly, American Journal of Medical Genetics, vol.93, issue.1, pp.71-79, 1982.
DOI : 10.1001/archopht.1979.01020010436007

H. Jiang, J. Sodek, G. Karsenty, H. Thomas, D. Ranly et al., Expression of core binding factor Osf2/Cbfa-1 and bone sialoprotein in tooth development, Mechanisms of Development, vol.81, issue.1-2, pp.1-2, 1999.
DOI : 10.1016/S0925-4773(98)00232-9

URL : https://doi.org/10.1016/s0925-4773(98)00232-9

T. Komori, H. Yagi, S. Nomura, A. Yamaguchi, K. Sasaki et al., Targeted Disruption of Cbfa1 Results in a Complete Lack of Bone Formation owing to Maturational Arrest of Osteoblasts, Cell, vol.89, issue.5, pp.755-764, 1997.
DOI : 10.1016/S0092-8674(00)80258-5

T. Komori, Roles of Runx2 in Skeletal Development, Adv. Exp. Med. Biol, vol.284, issue.5, pp.83-93, 2017.
DOI : 10.1074/jbc.M807466200

K. E. Lee, F. Seymen, J. Ko, M. Yildirim, E. B. Tuna et al., RUNX2 mutations in cleidocranial dysplasia, RUNX2 mutations in cleidocranial dysplasia, pp.4567-4574, 2013.
DOI : 10.4238/2013.October.15.5

URL : http://doi.org/10.4238/2013.october.15.5

M. T. Lee, A. C. Tsai, C. H. Chou, F. M. Sun, L. C. Huang et al., Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia, Genomic Medicine, vol.8, issue.12, pp.45-49, 2008.
DOI : 10.1093/hmg/8.12.2311

URL : http://europepmc.org/articles/pmc2518658?pdf=render

S. Li, H. Kong, N. Yao, Q. Yu, P. Wang et al., The role of runt-related transcription factor 2 (Runx2) in the late stage of odontoblast differentiation and dentin formation, Biochemical and Biophysical Research Communications, vol.410, issue.3, pp.410-698, 2011.
DOI : 10.1016/j.bbrc.2011.06.065

H. C. Mefford, N. Shafer, F. Antonacci, J. M. Tsai, S. S. Park et al., Copy number variation analysis in single-suture craniosynostosis: Multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis, American Journal of Medical Genetics Part A, vol.9, issue.9, pp.2203-2210, 2010.
DOI : 10.1097/01.PRS.0000122202.26792.BF

URL : http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33557/pdf

P. Moffatt, B. Amor, M. Glorieux, F. H. Roschger, P. Klaushofer et al., Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2, The American Journal of Human Genetics, vol.92, issue.2, pp.252-258, 2013.
DOI : 10.1016/j.ajhg.2012.12.001

URL : https://doi.org/10.1016/j.ajhg.2012.12.001

A. Molin, S. Lopez-cazaux, O. Pichon, M. Vincent, B. Isidor et al., Patients with isolated oligo/hypodontia caused by RUNX2 duplication, American Journal of Medical Genetics Part A, vol.16, issue.6, pp.1386-1390, 2015.
DOI : 10.1111/j.1601-0825.2009.01623.x

T. Okuda, M. Nishimura, M. Nakao, and Y. Fujita, RUNX1/AML1: A Central Player in Hematopoiesis, International Journal of Hematology, vol.93, issue.5124, pp.252-257, 2001.
DOI : 10.1073/pnas.93.5.1935

C. E. Ott, G. Leschik, F. Trotier, L. Brueton, H. G. Brunner et al., Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia, Human Mutation, vol.31, issue.8, pp.1587-1593, 2010.
DOI : 10.1002/humu.21298

URL : https://hal.archives-ouvertes.fr/hal-00552401

H. M. Ryoo and X. P. Wang, Control of Tooth Morphogenesis by Runx2, Critical Reviews??? in Eukaryotic Gene Expression, vol.16, issue.2, pp.143-154, 2006.
DOI : 10.1615/CritRevEukarGeneExpr.v16.i2.30

H. M. Ryoo, H. Y. Kang, S. K. Lee, K. E. Lee, and J. W. Kim, RUNX2 mutations in cleidocranial dysplasia patients, RUNX2 mutations in cleidocranial dysplasia patients, pp.55-60, 2010.
DOI : 10.1128/MCB.18.7.4197

URL : http://onlinelibrary.wiley.com/doi/10.1111/j.1601-0825.2009.01623.x/pdf

A. Singh, M. Goswami, G. Pradhan, M. S. Han, J. Y. Choi et al., Cleidocranial Dysplasia with Normal Clavicles: A Report of a Novel Genotype and a Review of Seven Previous Cases, Molecular Syndromology, vol.6, issue.2, pp.83-86, 2015.
DOI : 10.1159/000375354

S. Vimalraj, B. Arumugam, P. J. Miranda, and N. Selvamurugan, Runx2: Structure, function, and phosphorylation in osteoblast differentiation, International Journal of Biological Macromolecules, vol.78, pp.202-208, 2015.
DOI : 10.1016/j.ijbiomac.2015.04.008

T. Yamashiro, T. Aberg, D. Levanon, Y. Groner, and I. Thesleff, RETRACTED: Expression of Runx1, -2 and -3 during tooth, palate and craniofacial bone development, Gene Expression Patterns, vol.2, issue.1-2, pp.109-112, 2002.
DOI : 10.1016/S0925-4773(02)00298-8

L. Merametdjian, European Journal of Medical Genetics