Cleidocranial dysplasia: clinical and molecular genetics.

@article{Mundlos1999CleidocranialDC,
  title={Cleidocranial dysplasia: clinical and molecular genetics.},
  author={Stefan Mundlos},
  journal={Journal of medical genetics},
  year={1999},
  volume={36 3},
  pages={177-82}
}
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. The disease gene has been mapped to chromosome 6p21 within a region containing CBFA1, a member of the runt family of transcription factors. Mutations in the CBFA1 gene that presumably lead to synthesis of an inactive gene product were identified in patients with CCD… CONTINUE READING
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