Human HOXA1 Syndromes

Last updated on 05-01-20

Last updated on 05-01-20

Last updated on 05-01-20

Last updated on 05-01-20

Last updated on 05-01-20

Tischfield MA, Bosley TM, Salih MAM, Alorainy IA, Sener EC, Nester MJ, Oystreck DT, Chan W-C, Andrews C, Erickson RP, Engle EC. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development Nature Genetics. Oct 2005; 37(10). 1035-1037. Reference Link Bosley TM, Salih MA, Alorainy IA, Oystreck DT, Nester M, at al. Clinical characterization of the HOXA1 syndrome BSAS variant Neurology. Sept 18, 2007; 69(12). 1245-1253. Reference Link Human HOXA1 syndromes National Organization of Rare Diseases (NORD). Updated 2013; Reference Link Higley MJ, Walkiewicza TW, Millera JH, Currana JG, Towbin RB. 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. Feb 2011; 32(2). E23-E25. Reference Link

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