What Disorders are Associated with the ABCA12 Gene?
Mutations in the ABCA12 gene are known to cause a range of skin disorders, most notably various forms of ichthyosis. The most severe form is Harlequin ichthyosis, a life-threatening condition evident at birth. Other types include lamellar ichthyosis and congenital ichthyosiform erythroderma (CIE).
