Radiological findings and molecular genetic confirmation of cleidocranial dysplasia

Clinical Radiology

Volumn 57, Issue 6, 2002, Pages 525-529

  Golan, Ilan ^a,b   Baumert, U W E ^a   Held, Paul ^a   Feuerbach, Stefan ^a   Müßig, Dieter ^a  

^a UNIVERSITY OF REGENSBURG   (Germany)

^b Department of Orthodontics ^*  (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ADULT; ARTICLE; BONE MALFORMATION; BONE RADIOGRAPHY; CASE REPORT; CEPHALOMETRY; CLEIDOCRANIAL DYSPLASIA; CLINICAL FEATURE; CONTROLLED STUDY; HUMAN; MALE; MOLECULAR GENETICS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RADIODIAGNOSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0036618803     PISSN: 00099260     EISSN: None     Source Type: Journal    
DOI: 10.1053/crad.2002.0943     Document Type: Article

References (12)

1. Anomalies of craniofacial skeleton and teeth in cleidocranial dysplasia
2. Cleidocranial dysplasia: Craniofacial morphology in adult patients
3. Sur la dysostose cleido-crânienne héréditaire
4. Langzeitbeobachtungen der Zahn-und Gebißentwicklung bei Patienten mit Dysostosis cleidocranialis
5. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
6. CBFA1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development
7. Cbfa1: A molecular switch in osteoblast biology
8. A CBFA1-dependent genetic pathway controls bone formation beyond embryonic development
9. A novel missense mutation of the CBFA1 gene in a family with cleidocranial dysplasia (CCD) and variable expressivity
10. Broad thumbs and toes and facial abnormalities: A possible mental retardation syndrome
11. Site-directed mutagenesis supports a three-dimensional model of the runt domain
12. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia