FAQ

Cleidocranial Dysplasia

Known as: Cleidocranial Dysostosis, Dysostoses, Cleidocranial Digital, dysostosis cleidocranial 
A rare autosomal dominant disorder caused by mutations in the RUNX2 gene. It is characterized by developmental abnormalities in the bones and teeth… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1945-2018
0204019452017

Related topics

Related topics

29 relations
Autosomal dominant inheritanceBrachydactylyCervical ribCleft Palate
(More)

Narrower (2)

Parietal Foramina With Cleidocranial DysplasiaYunis Varon syndrome

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Cleidocranial Dysplasia
radiotherapeutic
Autosomal dominant inheritance
prevention & control
Scoliosis, unspecified
Cleft Palate

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2010
2010
RUNX2 mutations in cleidocranial dysplasia patients.
OBJECTIVE Mutations in the RUNX2 gene, a master regulator of bone formation, have been identified in cleidocranial dysplasia (CCD… (More)
Is this relevant?
2005
2005
Dysregulation of chondrogenesis in human cleidocranial dysplasia.
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia caused by heterozygosity of mutations in human RUNX2… (More)
Is this relevant?
2002
2002
Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations.
Cleidocranial dysplasia (CCD) is an autosomal dominant heritable skeletal disease caused by heterozygous mutations in the… (More)
Is this relevant?
2001
2001
A natural history of cleidocranial dysplasia.
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia associated with clavicle hypoplasia and dental… (More)
Is this relevant?
Highly Cited
2000
Highly Cited
2000
A RUNX2/PEBP2alpha A/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasia.
Cleidocranial dysplasia (CCD), an autosomal-dominant human bone disease, is thought to be caused by heterozygous mutations in… (More)
Is this relevant?
Highly Cited
1999
Highly Cited
1999
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.
Cleidocranial dysplasia (CCD) is a dominantly inherited skeletal dysplasia caused by mutations in the osteoblast-specific… (More)
Is this relevant?
Highly Cited
1997
Highly Cited
1997
Cbfa1, a Candidate Gene for Cleidocranial Dysplasia Syndrome, Is Essential for Osteoblast Differentiation and Bone Development
We have generated Cbfa1-deficient mice. Homozygous mutants die of respiratory failure shortly after birth. Analysis of their… (More)
  • figure 1
  • figure 2
  • figure 4
  • figure 5
  • figure 6
Is this relevant?
Highly Cited
1997
Highly Cited
1997
Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
Cleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent… (More)
  • figure 1
  • figure 2
  • figure 4
Is this relevant?
Highly Cited
1997
Highly Cited
1997
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by hypoplastic or absent clavicles, large… (More)
Is this relevant?
1990
1990
[Development of the dentition in cleidocranial dysplasia].
The purpose of the present investigation was to describe the formation, maturation and eruption of the dentition, including… (More)
Is this relevant?