cleidocranial dysplasia

Summary

Summary: Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of the fifth fingers; and dental and vertebral anomalies.

Top Publications

  1. Cooper S, Flaitz C, Johnston D, Lee B, Hecht J. A natural history of cleidocranial dysplasia. Am J Med Genet. 2001;104:1-6 pubmed
    b>Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia associated with clavicle hypoplasia and dental abnormalities...
  2. Puppin C, Pellizzari L, Fabbro D, Fogolari F, Tell G, Tessa A, et al. Functional analysis of a novel RUNX2 missense mutation found in a family with cleidocranial dysplasia. J Hum Genet. 2005;50:679-83 pubmed
    Mutations of the RUNX2 gene result in dominantly inherited cleidocranial dysplasia (CCD). RUNX2 encodes for an osteoblast-specific transcription factor, which recognizes specific DNA sequences by the runt domain...
  3. Lee K, Seymen F, Ko J, Yildirim M, Tuna E, Gencay K, et al. RUNX2 mutations in cleidocranial dysplasia. Genet Mol Res. 2013;12:4567-74 pubmed publisher
    ..Mutations in RUNX2 have been identified in cleidocranial dysplasia (CCD) patients...
  4. Winer N, Le Caignec C, Quere M, David A, Boceno M, Aubron F, et al. Prenatal diagnosis of a cleidocranial dysplasia-like phenotype associated with a de novo balanced t(2q;6q)(q36;q16) translocation. Ultrasound Obstet Gynecol. 2003;22:648-51 pubmed
    b>Cleidocranial dysplasia (CCD) is a congenital disorder of bone development characterized by persistently open or delayed closure of cranial sutures and wormian bones, hypoplastic and/or aplastic clavicles, wide pubic symphysis, dental ..
  5. Furuuchi T, Kochi S, Sasano T, Iikubo M, Komai S, Igari K. Morphologic characteristics of masseter muscle in cleidocranial dysplasia: a report of 3 cases. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2005;99:185-90 pubmed
    b>Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia...
  6. Suba Z, Balaton G, Gyulai gaál S, Balaton P, Barabás J, Tarjan I. Cleidocranial dysplasia: diagnostic criteria and combined treatment. J Craniofac Surg. 2005;16:1122-6 pubmed
    b>Cleidocranial dysplasia (CCD) is an uncommon, generalized skeletal disorder characterized by delayed ossification of the skull, aplastic or hypoplastic clavicles, and serious, complex dental abnormalities...
  7. Cunningham M, Seto M, Hing A, Bull M, Hopkin R, Leppig K. Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations. Birth Defects Res A Clin Mol Teratol. 2006;76:78-85 pubmed
    b>Cleidocranial dysplasia (CCD) is an autosomal-dominant skeletal dysplasia syndrome that is characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature...
  8. Bergwitz C, Prochnau A, Mayr B, Kramer F, Rittierodt M, Berten H, et al. Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia. J Inherit Metab Dis. 2001;24:648-56 pubmed
    ..Haplotype insufficiency causes cleidocranial dysplasia (CCD), a syndrome featuring supernumerary tooth buds, delayed tooth eruption, patent fontanels, Wormian ..
  9. Goseki Sone M, Orimo H, Watanabe A, Hamatani R, Yokozeki M, Ohyama K, et al. Identification of a novel frameshift mutation (383insT) in the RUNX2 (PEBP2 alpha/CBFA1/AML3) gene in a Japanese patient with cleidocranial dysplasia. J Bone Miner Metab. 2001;19:263-6 pubmed
    b>Cleidocranial dysplasia (CCD) is an autosomal dominant disorder due to mutations in runt-related gene 2 (RUNX2)/polyomavirus enhancer-binding protein 2alphaA (PEBP2alphaA)/core-binding factor A1 (CBFA1)/acute myeloid leukemia 3 (AML3)...

More Information

Publications63

  1. Xuan D, Li S, Zhang X, Lin L, Wang C, Zhang J. A novel RUNX2 mutation in cleidocranial dysplasia patients. Biochem Genet. 2008;46:702-7 pubmed publisher
    b>Cleidocranial dysplasia (CCD) is an autosomal-dominant heritable skeletal disease caused by heterozygous mutations in the RUNX2 gene. Here, the RUNX2 gene was analyzed within a CCD family from China, and a novel missense mutation (c...
  2. Zhang Y, Yasui N, Ito K, Huang G, Fujii M, Hanai J, et al. A RUNX2/PEBP2alpha A/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasia. Proc Natl Acad Sci U S A. 2000;97:10549-54 pubmed
    b>Cleidocranial dysplasia (CCD), an autosomal-dominant human bone disease, is thought to be caused by heterozygous mutations in runt-related gene 2 (RUNX2)/polyomavirus enhancer binding protein 2alphaA (PEBP2alphaA)/core-binding factor A1 (..
  3. Mohan R, Suma G, Vashishth S, Goel S. Cleidocranial dysplasia: clinico-radiological illustration of a rare case. J Oral Sci. 2010;52:161-6 pubmed
    b>Cleidocranial dysplasia is an autosomal dominant condition caused by mutation of RUNX2, characterized by generalized dysplasia of the bones and teeth...
  4. Kamamoto M, Machida J, Miyachi H, Ono T, Nakayama A, Shimozato K, et al. A novel mutation in the C-terminal region of RUNX2/CBFA1 distal to the DNA-binding runt domain in a Japanese patient with cleidocranial dysplasia. Int J Oral Maxillofac Surg. 2011;40:434-7 pubmed publisher
    b>Cleidocranial dysplasia (CCD) is an autosomal dominant inherited skeletal disease with high penetrance and variable expressivity...
  5. Mundlos S, Otto F, Mundlos C, Mulliken J, Aylsworth A, Albright S, et al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell. 1997;89:773-9 pubmed
    b>Cleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent fontanelles, supernumerary teeth, short stature, and other changes in skeletal patterning and growth...
  6. Yoshida T, Kanegane H, Osato M, Yanagida M, Miyawaki T, Ito Y, et al. Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype-phenotype correlations. Blood Cells Mol Dis. 2003;30:184-93 pubmed
    b>Cleidocranial dysplasia (CCD) is an inherited autosomal-dominant skeletal disease caused by heterozygous mutations in the osteoblast-specific transcription factor, RUNX2...
  7. Mehta D, Vachhani R, Patel M. Cleidocranial dysplasia: a report of two cases. J Indian Soc Pedod Prev Dent. 2011;29:251-4 pubmed publisher
    b>Cleidocranial dysplasia (CCD) is an autosomal dominant disorder that presents with skeletal dysplasia...
  8. Sato K, Sugawara J, Mitani H, Kawamura H. Use of selectively colored stereolithography for diagnosis of impacted supernumerary teeth for a patient with cleidocranial dysplasia. Int J Adult Orthodon Orthognath Surg. 1998;13:163-7 pubmed
    ..a three-dimensional method of locating the position of impacted supernumerary teeth in a patient with cleidocranial dysplasia. Stereolithographies of the patient's teeth and maxillofacial structure were prepared, coloring the teeth ..
  9. Han M, Kim H, Wee H, Lim K, Park N, Bae S, et al. The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-beta. J Cell Biochem. 2010;110:97-103 pubmed publisher
    b>Cleidocranial dysplasia (CCD) is caused by haploinsufficiency in RUNX2 function. We have previously identified a series of RUNX2 mutations in Korean CCD patients, including a novel R131G missense mutation in the Runt-homology domain...
  10. Ott C, Leschik G, Trotier F, Brueton L, Brunner H, Brussel W, et al. Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Hum Mutat. 2010;31:E1587-93 pubmed publisher
    b>Cleidocranial Dysplasia (CCD) is an autosomal dominant skeletal disorder characterized by hypoplastic or absent clavicles, increased head circumference, large fontanels, dental anomalies, and short stature...
  11. Lo Muzio L, Tete S, Mastrangelo F, Cazzolla A, Lacaita M, Margaglione M, et al. A novel mutation of gene CBFA1/RUNX2 in cleidocranial dysplasia. Ann Clin Lab Sci. 2007;37:115-20 pubmed
    b>Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes...
  12. Shapiro I. Discovery: Osf2/Cbfa1, a master gene of bone formation. Clin Orthod Res. 1999;2:42-6 pubmed
    ..A search conducted for Osf2 mutations in kindreds with cleidocranial dysplasia revealed deletions, insertions, and missense mutations; these mutations are found to segregate with ..
  13. Kuroda S, Yanagita T, Kyung H, Takano Yamamoto T. Titanium screw anchorage for traction of many impacted teeth in a patient with cleidocranial dysplasia. Am J Orthod Dentofacial Orthop. 2007;131:666-9 pubmed
    b>Cleidocranial dysplasia (CCD) is a rare inherited skeletal dysplasia, often with prolonged retention of deciduous teeth and several impacted permanent successors and supernumerary elements.
  14. Cohen M. Biology of RUNX2 and Cleidocranial Dysplasia. J Craniofac Surg. 2013;24:130-3 pubmed publisher
    Three features of cleidocranial dysplasia that are not always appreciated are hypoplastic iliac wings, short stature, and brachydactyly. Because of the pelvic abnormality, pregnant women may require a cesarean delivery...
  15. Chen S, Santos L, Wu Y, Vuong R, Gay I, Schulze J, et al. Altered gene expression in human cleidocranial dysplasia dental pulp cells. Arch Oral Biol. 2005;50:227-36 pubmed
    b>Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterised by defects of bone and tooth development...
  16. Suda N, Hamada T, Hattori M, Torii C, Kosaki K, Moriyama K. Diversity of supernumerary tooth formation in siblings with cleidocranial dysplasia having identical mutation in RUNX2 : possible involvement of non-genetic or epigenetic regulation. Orthod Craniofac Res. 2007;10:222-5 pubmed
    b>Cleidocranial dysplasia (CCD, MIM #119600) is an autosomal-dominant disorder characterized by hypoplasia or aplasia of clavicles, patent fontanelles and short stature. The responsible gene has been identified as RUNX2...
  17. Golan I, Baumert U, Pragier R, Aknin J, Rodde J, Mussig D. [Inter- and intrafamilial expression of cleidocranial dysostosis]. Orthod Fr. 2003;74:7-13 pubmed
    b>Cleidocranial dysplasia is a bony autosomal dominant disorder, defined by late closure of fontanels and sutures, clavicular aplasia or hypoplasia and supernumerary teeth...
  18. Otto F, Thornell A, Crompton T, Denzel A, Gilmour K, Rosewell I, et al. Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. Cell. 1997;89:765-71 pubmed
    ..showed specific skeletal abnormalities that are characteristic of the human heritable skeletal disorder, cleidocranial dysplasia (CCD). These defects are also observed in a mouse Ccd mutant for this disease...
  19. Ito Y, Zhang Y. A RUNX2/PEBP2alphaA/CBFA1 mutation in cleidocranial dysplasia revealing the link between the gene and Smad. J Bone Miner Metab. 2001;19:188-94 pubmed
    b>Cleidocranial dysplasia (CCD), an autosomal dominant human bone disease, is thought to be caused by heterozygous mutations in RUNX2/PEBP2alphaA/CBFA1...
  20. Lee B, Thirunavukkarasu K, Zhou L, Pastore L, Baldini A, Hecht J, et al. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. Nat Genet. 1997;16:307-10 pubmed
    b>Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by hypoplastic or absent clavicles, large fontanelles, dental anomalies and delayed skeletal development...
  21. Morava E, Karteszi J, Weisenbach J, Caliebe A, Mundlos S, Méhes K. Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. Eur J Pediatr. 2002;161:619-22 pubmed
    b>Cleidocranial dysplasia (CCD; MIM 119600) is an autosomal dominant skeletal dysplasia characterised by hypoplastic clavicles, patent fontanelles, short stature, tooth anomalies and other variable skeletal changes...
  22. Golan I, Baumert U, Hrala B, Mussig D. Dentomaxillofacial variability of cleidocranial dysplasia: clinicoradiological presentation and systematic review. Dentomaxillofac Radiol. 2003;32:347-54 pubmed
    The aim of this study was to determine the clinical and radiological presentation of cleidocranial dysplasia (CCD) in our patient group and to compare them with other reported cases by a systematic review (SR) of the literature.
  23. McGuire T, Gomes P, Lam D, Sandor G. Cranioplasty for midline metopic suture defects in adults with cleidocranial dysplasia. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007;103:175-9 pubmed
    Patients with cleidocranial dysplasia often express concerns related to their perception of an undesirable esthetic appearance of their forehead and skull because of a combination of the persistence of metopic suture defects and frontal ..
  24. Northup J, Matalon R, Lockhart L, Hawkins J, Velagaleti G. A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia. Eur J Med Genet. 2011;54:e394-8 pubmed publisher
    ..Here we report a 7-month-old, Hispanic girl presenting with cleidocranial dysplasia (CCD) who was found to have a complex chromosome rearrangement of chromosome 6...
  25. Suda N, Hattori M, Kosaki K, Banshodani A, Kozai K, Tanimoto K, et al. Correlation between genotype and supernumerary tooth formation in cleidocranial dysplasia. Orthod Craniofac Res. 2010;13:197-202 pubmed publisher
    b>Cleidocranial dysplasia (CCD, MIM#119600), for which the responsible gene is RUNX2, is a genetic disorder characterized by hypoplasia or aplasia of the clavicles, patent fontanelles, and a short stature...
  26. Ducy P. Cbfa1: a molecular switch in osteoblast biology. Dev Dyn. 2000;219:461-71 pubmed
    ..differentiation was further emphasized by the identification of Cbfa1 haploinsufficiency as the cause of cleidocranial dysplasia in humans and mice, a syndrome characterized by generalized bone defects...
  27. Yoshida T, Kanegane H, Osato M, Yanagida M, Miyawaki T, Ito Y, et al. Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. Am J Hum Genet. 2002;71:724-38 pubmed
    b>Cleidocranial dysplasia (CCD) is an autosomal dominant heritable skeletal disease caused by heterozygous mutations in the osteoblast-specific transcription factor RUNX2...
  28. Zhou G, Chen Y, Zhou L, Thirunavukkarasu K, Hecht J, Chitayat D, et al. CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. Hum Mol Genet. 1999;8:2311-6 pubmed
    b>Cleidocranial dysplasia (CCD) is a dominantly inherited skeletal dysplasia caused by mutations in the osteoblast-specific transcription factor CBFA1...
  29. Zhang Y, Yasui N, Kakazu N, Abe T, Takada K, Imai S, et al. PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients. Gene. 2000;244:21-8 pubmed
    b>Cleidocranial dysplasia (CCD) is an autosomal dominant human bone disease whose genetic locus has been located on chromosome 6p21, where the PEBP2alphaA/CBFA1 gene essential for osteogenesis also maps...
  30. Ryoo H, Kang H, Lee S, Lee K, Kim J. RUNX2 mutations in cleidocranial dysplasia patients. Oral Dis. 2010;16:55-60 pubmed publisher
    Mutations in the RUNX2 gene, a master regulator of bone formation, have been identified in cleidocranial dysplasia (CCD) patients...
  31. Quack I, Vonderstrass B, Stock M, Aylsworth A, Becker A, Brueton L, et al. Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. Am J Hum Genet. 1999;65:1268-78 pubmed
    b>Cleidocranial dysplasia (CCD) is a dominantly inherited disorder characterized by patent fontanelles, wide cranial sutures, hypoplasia of clavicles, short stature, supernumerary teeth, and other skeletal anomalies...
  32. Nagata T, Werner M. Functional mutagenesis of AML1/RUNX1 and PEBP2 beta/CBF beta define distinct, non-overlapping sites for DNA recognition and heterodimerization by the Runt domain. J Mol Biol. 2001;308:191-203 pubmed
    ..associated with the onset of acute human leukemia as well as a disease of skeletal patterning known as cleidocranial dysplasia. NMR "footprinting" analysis of Runt domain/beta/DNA ternary complexes in solution previously ..
  33. Nienhaus H, Mau U, Zang K, Henn W. Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia. Am J Med Genet. 1993;46:630-1 pubmed
    We describe a male patient with a pericentric inversion of chromosome 6 and classic cleidocranial dysplasia (CCD), mild to moderate mental retardation, hearing deficiency, and unusual facial appearance...
  34. Huang L, Fukai N, Selby P, Olsen B, Mundlos S. Mouse clavicular development: analysis of wild-type and cleidocranial dysplasia mutant mice. Dev Dyn. 1997;210:33-40 pubmed
    b>Cleidocranial dysplasia (CCD) is an autosomal dominant disease characterized by hypoplasia or aplasia of clavicles, open fontanelles, and other skeletal anomalies...
  35. Bufalino A, Paranaíba L, Gouvêa A, Gueiros L, Martelli Junior H, Junior J, et al. Cleidocranial dysplasia: oral features and genetic analysis of 11 patients. Oral Dis. 2012;18:184-90 pubmed publisher
    b>Cleidocranial dysplasia (CCD) is a dominantly inherited autosomal disease characterized by typical bone defects including short stature, persistently open or delayed closure of the cranial sutures, and hypoplastic or aplastic clavicles...
  36. Garcia Minaur S, Mavrogiannis L, Rannan Eliya S, Hendry M, Liston W, Porteous M, et al. Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. Eur J Hum Genet. 2003;11:892-5 pubmed
    ..parietal foramina (PFM) and deficient ossification of the clavicles is known as parietal foramina with cleidocranial dysplasia (PFMCCD)...
  37. Golan I, Baumert U, Hrala B, Mussig D. Early craniofacial signs of cleidocranial dysplasia. Int J Paediatr Dent. 2004;14:49-53 pubmed
    ..The aim of this study is to describe the initial craniofacial findings in patients with CCD in order to categorise their reliability for early detection...
  38. Tessa A, Salvi S, Casali C, Garavelli L, Digilio M, Dotti M, et al. Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia. Hum Mutat. 2003;22:104 pubmed
    We report clinical and molecular findings in 14 patients with cleidocranial dysplasia (CCD), a well defined skeletal disorder with characteristic clinical findings and autosomal dominant inheritance...
  39. Olszewska A. Dental treatment strategies in a 40-year-old patient with cleidocranial dysplasia. J Appl Genet. 2006;47:199-201 pubmed
    Oral anomalies and dental treatment in a patient with cleidocranial dysplasia (referred to the dental clinic at the age of 40 years) are presented...
  40. Machuca Tzili L, Monroy Jaramillo N, González del Angel A, Kofman Alfaro S. New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia. Clin Genet. 2002;61:349-53 pubmed
    b>Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder exhibiting a wide clinical spectrum ranging from minimal anomalies to classic CCD...
  41. Yoda S, Suda N, Kitahara Y, Komori T, Ohyama K. Delayed tooth eruption and suppressed osteoclast number in the eruption pathway of heterozygous Runx2/Cbfa1 knockout mice. Arch Oral Biol. 2004;49:435-42 pubmed
    ..one allele of runt-related gene 2 (RUNX2/CBFA1) as the cause for an autosomal-dominant skeletal disorder, cleidocranial dysplasia (CCD), which is characterised by hypoplasia of the clavicles and calvariae and widened sutures and ..
  42. Cogulu O, Munanoglu D, Karaca E, Onay H, Ozkinay F. Cleidocranial dysplasia with new additional findings. Genet Couns. 2004;15:229-31 pubmed
  43. Mundlos S. Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet. 1999;36:177-82 pubmed
    b>Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes...
  44. Fernandez B, Siegel Bartelt J, Herbrick J, Teshima I, Scherer S. Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature. Clin Genet. 2005;68:349-59 pubmed
    ..The sonic hedgehog gene (SHH) at 7q36 has been identified as the HPE3 locus. Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder characterized by clavicular, pelvic and dental anomalies...
  45. Otto F, Kanegane H, Mundlos S. Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum Mutat. 2002;19:209-16 pubmed
    b>Cleidocranial dysplasia (CCD) is a autosomal dominant disorder characterized by skeletal anomalies such as patent fontanels, late closure of cranial sutures with Wormian bones, late erupting secondary dentition, rudimentary clavicles, ..
  46. Wang G, Sun R, Song F. A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia. Genet Mol Res. 2010;9:41-7 pubmed publisher
    b>Cleidocranial dysplasia (CCD) is an autosomal-dominant heritable skeletal disease caused by heterozygous mutations in the RUNX2 gene...
  47. Chelvan H, Malathi N, Kailasam V, Ponnudurai A. Cleidocranial dysplasia: a family report. J Indian Soc Pedod Prev Dent. 2009;27:249-52 pubmed publisher
    ..Complete clinical and radiological examination of this patient confirmed the diagnosis of cleidocranial dysplasia (CCD). Her father also presented similar features with a lesser clinical severity...
  48. Counts A, Rohrer M, Prasad H, Bolen P. An assessment of root cementum in cleidocranial dysplasia. Angle Orthod. 2001;71:293-8 pubmed
    ..the amount of cellular and acellular cementum on the roots of 2 teeth extracted from a subject with cleidocranial dysplasia (CCD) compared to 10 teeth extracted from 10 subjects unaffected by CCD...
  49. Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, et al. Dysregulation of chondrogenesis in human cleidocranial dysplasia. Am J Hum Genet. 2005;77:305-12 pubmed
    b>Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia caused by heterozygosity of mutations in human RUNX2...
  50. Lou Y, Javed A, Hussain S, Colby J, Frederick D, Pratap J, et al. A Runx2 threshold for the cleidocranial dysplasia phenotype. Hum Mol Genet. 2009;18:556-68 pubmed publisher
    b>Cleidocranial dysplasia (CCD) in humans is an autosomal-dominant skeletal disease that results from mutations in the bone-specific transcription factor RUNX2 (CBFA1/AML3)...
  51. Zou S, D Souza R, Ahlberg T, Bronckers A. Tooth eruption and cementum formation in the Runx2/Cbfa1 heterozygous mouse. Arch Oral Biol. 2003;48:673-7 pubmed
    b>Cleidocranial dysplasia (CCD) is an autosomal dominant human disorder that affects development of bones and teeth...
  52. Daskalogiannakis J, Piedade L, Lindholm T, Sandor G, Carmichael R. Cleidocranial dysplasia: 2 generations of management. J Can Dent Assoc. 2006;72:337-42 pubmed
    Patients with cleidocranial dysplasia (CCD) commonly present with significant dental problems, such as retention of multiple deciduous teeth, impaction or delay in eruption of permanent teeth and, often, the presence of supernumerary ..
  53. Purandare S, Mendoza Londono R, Yatsenko S, Napierala D, Scott D, Sibai T, et al. De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia. Am J Med Genet A. 2008;146A:453-8 pubmed publisher
    b>Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia associated with cranial, clavicular, and dental anomalies...
  54. Tanaka J, Ono E, Filho E, Castilho J, Moraes L, Moraes M. Cleidocranial dysplasia: importance of radiographic images in diagnosis of the condition. J Oral Sci. 2006;48:161-6 pubmed
    b>Cleidocranial dysplasia (CCD) is a rare syndrome usually caused by an autosomal dominant gene, although 40% of cases of CCD appear spontaneously with no apparent genetic cause...