H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome.

@article{Kragesteen2019H2AFYPD,
  title={H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome.},
  author={Bj{\o}rt K Kragesteen and Francesco Brancati and Maria Christina Digilio and Stefan Mundlos and Malte Spielmann},
  journal={Journal of medical genetics},
  year={2019},
  volume={56 4},
  pages={
          246-251
        }
}
BACKGROUND Structural variants (SVs) affecting non-coding cis-regulatory elements are a common cause of congenital limb malformation. Yet, the functional interpretation of these non-coding variants remains challenging. The human Liebenberg syndrome is characterised by a partial transformation of the arms into legs and has been shown to be caused by SVs at the PITX1 locus leading to its misregulation in the forelimb by its native enhancer element Pen. This study aims to elucidate the genetic… CONTINUE READING
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