Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females

@article{Peterson2014FamilialMO,
  title={Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females},
  author={Jess F Peterson and Lina Ghaloul-Gonzalez and Suneeta Madan‐Khetarpal and Jessica Hartman and Urvashi Surti and Aleksandar Rajkovic and Svetlana A. Yatsenko},
  journal={American Journal of Medical Genetics Part A},
  year={2014},
  volume={164},
  pages={364 - 369}
}
Congenital clubfoot is a heterogeneous disorder that can result in functional disability, deformity, and pain if left untreated. Although the etiology is considered multifactorial in the majority of cases, a 17q23.1–q23.2 duplication has been reported in families with congenital clubfoot characterized by variable expressivity and incomplete penetrance. The candidate gene within the duplicated region is TBX4, a T‐box transcription factor required for normal hind limb development. We describe a… 
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