HOXA1

Publications

Bosley TM et al. The clinical spectrum of homozygous HOXA1 mutations. Am. J. Med. Genet. 146A: 1235-1240, 2008. PMID: 18412118.

Bosley TM et al. Clinical characterization of the HOXA1 syndrome BSAS variant. Neurology. 2007 Sep 18;69(12):1245-53. PMID: 17875913.

Higley MJ et al. Bilateral complete labyrinthine aplasia with bilateral internal carotid artery aplasia, developmental delay, and gaze abnormalities: a presumptive case of a rare HOXA1 mutation syndrome. AJNR Am J Neuroradiol. 2011;32(2):E23-5. PMID: 20075099.

Patil SJ et al. Bosley-Salih-Alorainy syndrome in patients from India. Am J Med Genet A. 2020;182(11):2699-2703. PMID: 32864817.

Tischfield MA et al. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nature Genet. 37 (10): 1035-1037, 2005. PMID: 16155570.