Treacher Collins syndrome.

@article{Dixon1996TreacherCS,
  title={Treacher Collins syndrome.},
  author={Michael James Dixon},
  journal={Human molecular genetics},
  year={1996},
  volume={5 Spec No},
  pages={1391-6}
}
Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. In the absence of a candidate gene, a positional cloning approach has been used to isolate the mutated gene which maps to chromosome 5q31.3-32. Flanking markers were identified and a yeast artificial chromosome and cosmid contig of the region defined by these markers was created as a prelude to the creation of a transcript map of the… CONTINUE READING
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