The clinical spectrum of homozygous HOXA1 mutations.

  title={The clinical spectrum of homozygous HOXA1 mutations.},
  author={Thomas M. Bosley and Ibrahim A. Alorainy and Mustafa A Salih and Hesham M Aldhalaan and Khaled K Abu-Amero and Darren T. Oystreck and Max A. Tischfield and Elizabeth C. Engle and Robert P. Erickson},
  journal={American journal of medical genetics. Part A},
  volume={146A 10},
We describe nine previously unreported individuals from six families who have homozygous mutations of HOXA1 and either the Bosley-Salih-Alorainy syndrome (BSAS) or the Athabascan brainstem dysgenesis syndrome (ABDS). Congenital heart disease was present in four BSAS patients, two of whom had neither deafness nor horizontal gaze restriction, thus raising the possibility that cardiovascular malformations might be a clinically isolated, or relatively isolated, manifestation of homozygous HOXA1… CONTINUE READING


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