Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development

@article{Tischfield2005HomozygousHM,
  title={Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development},
  author={Max A. Tischfield and Thomas M. Bosley and Mustafa A Salih and Ibrahim A. Alorainy and Emin Cumhur Şener and Michael J Nester and Darren T. Oystreck and W. Q. Chan and Caroline V. Andrews and Robert P. Erickson and Elizabeth C. Engle},
  journal={Nature Genetics},
  year={2005},
  volume={37},
  pages={1035-1037}
}
We identified homozygous truncating mutations in HOXA1 in three genetically isolated human populations. The resulting phenotype includes horizontal gaze abnormalities, deafness, facial weakness, hypoventilation, vascular malformations of the internal carotid arteries and cardiac outflow tract, mental retardation and autism spectrum disorder. This is the first report to our knowledge of viable homozygous truncating mutations in any human HOX gene and of a mendelian disorder resulting from… CONTINUE READING
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Nature Genetics Volume

  • O. Chisaka, T. S. Musci, M. R. Capecchi
  • Nature
  • 1992

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