A recent study in humans revealed that mutations in a single Hox gene, HOXA1 (Athabascan Brainstem Dysgenesis Syndrome, Bosley-Salih-Alorainy Syndrome), can cause severe cardiovascular malformations, some of which are lethal without surgical intervention.
A recent study in humans revealed that mutations in a single Hox gene, HOXA1 (Athabascan Brainstem Dysgenesis Syndrome, Bosley-Salih-Alorainy Syndrome), can cause severe cardiovascular malformations, some of which are lethal without surgical intervention.
These individuals blur the clinical distinctions between the BSAS and ABDSHOXA1 variants and broaden the phenotype and genotype of the homozygous HOXA1 mutation clinical spectrum.
These individuals blur the clinical distinctions between the BSAS and ABDSHOXA1 variants and broaden the phenotype and genotype of the homozygous HOXA1 mutation clinical spectrum.