Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia

@article{Lee1997MissenseMA,
  title={Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia},
  author={Brendan Lee and Kannan Thirunavukkarasu and Lei Zhou and Lucio Pastore and Antonio Baldini and Jacqueline Tauber Hecht and Valeric Geoffrey and Patricia Ducy and Gerard Karsenty},
  journal={Nature Genetics},
  year={1997},
  volume={16},
  pages={307-310}
}
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by hypoplastic or absent clavicles, large fontanelles, dental anomalies and delayed skeletal development1. The phenotype is suggestive of a generalized defect in ossification and is one of the most common skeletal dysplasias not associated with disproportionate stature. To date, no genetic determinants of ossficiation have been identified. CCD has been mapped to chromosome 6p212,3, where CBFA1, a gene encoding OSF2… CONTINUE READING
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