Dissecting contiguous gene defects: TBX1.

@article{Baldini2005DissectingCG,
  title={Dissecting contiguous gene defects: TBX1.},
  author={Antonio Baldini},
  journal={Current opinion in genetics & development},
  year={2005},
  volume={15 3},
  pages={279-84}
}
DiGeorge syndrome is mainly caused by a multigene, heterozygous, interstitial chromosomal deletion. Of the approximately 30 deleted genes, Tbx1 is the only gene that, after an extensive functional analysis in the mouse, has been found to be haploinsufficient. The mutant phenotype is convincingly similar to the human syndrome, and its human homolog, TBX1, is the only gene for which mutations have been found in some patients without the chromosomal deletion. The research interest in this syndrome… CONTINUE READING
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