- Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity. Akiyama, M., Sakai, K., Sugiyama-Nakagiri, Y., Yamanaka, Y., McMillan, J.R., Sawamura, D., Niizeki, H., Miyagawa, S., Shimizu, H. J. Invest. Dermatol. (2006)