Deletions of 5' HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus.

@article{Alvarado2016DeletionsO5,
  title={Deletions of 5' HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus.},
  author={David M. Alvarado and Kevin Mccall and Jacqueline Tauber Hecht and Matthew B. Dobbs and Christina A. Gurnett},
  journal={Journal of medical genetics},
  year={2016},
  volume={53 4},
  pages={250-5}
}
BACKGROUND Deletions of the HOXC gene cluster result in variable phenotypes in mice, but have been rarely described in humans. OBJECTIVE To report chromosome 12q13.13 microdeletions ranging from 13 to 175 kb and involving the 5' HOXC genes in four families, segregating congenital lower limb malformations, including clubfoot, vertical talus and hip dysplasia. METHODS Probands (N=253) with clubfoot or vertical talus were screened for point mutations and copy number variants using multiplexed… CONTINUE READING
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