Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing

@inproceedings{Shamseldin2013LiftingTL,
  title={Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing},
  author={Hanan E Shamseldin and Abdulrahman Swaid and Fowzan S Alkuraya},
  booktitle={Genetics in Medicine},
  year={2013}
}
Purpose:Mendelian phenotypes in humans vary from benign variants to lethal disorders. Embryonic lethal phenotypes that are similar to what has been known for a long time in mice have remained largely unknown because of the difficulty in arriving at a molecular diagnosis. The purpose of this study is to test whether next generation sequencing can reveal the underlying etiology of recurrent fetal loss.Methods:We hypothesized that exome sequencing combined with autozygome analysis can reveal the… CONTINUE READING
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