|Table 2: A summary of the types of mutations identified (from the literature review) for each subtype of ARCI (autosomal recessive congenital ichthyosis) and the corresponding effects on the ABCA12 protein. This table shows that the most deleterious changes often result in the HI phenotype, while the mutations which have a less severe effect on the protein often lead to the CIE and LI phenotypes.|
HI: Harlequin ichthyosis.|
CIE: congenital ichthyosiform erythroderma.
LI: lamellar ichthyosis.