Mosaicism of a TCOF1 mutation in an individual clinically unaffected with treacher collins syndrome

@article{Shoo2004MosaicismOA,
  title={Mosaicism of a TCOF1 mutation in an individual clinically unaffected with treacher collins syndrome},
  author={B. A. Shoo and E. McPherson and E. Jabs},
  journal={American Journal of Medical Genetics Part A},
  year={2004},
  volume={126A}
}
Treacher Collins syndrome (TCS) or mandibulofacial dysostosis is an autosomal dominant disorder of craniofacial development with 60% of its cases arising de novo. Other modes of inheritance such as autosomal recessive, gonadal mosaicism, and chromosomal rearrangement have also been proposed. This syndrome can result from TCOF1 gene mutations. In this study we identified a TCOF1 1408delAG heterozygous mutation in a patient with the clinical diagnosis of TCS. This same mutation was found in the… Expand
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