A novel ABCA12 mutation 3270delT causes harlequin ichthyosis

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Akiyama, M., Sakai, K., Wolff, G., Hausser, I., McMillan, J. R., Sawamura, D., & Shimizu, H. (2006). A novel ABCA12 mutation 3270delT causes harlequin ichthyosis. British Journal of Dermatology, 155(5), 1064–1066. https://doi.org/10.1111/j.1365-2133.2006.07434.x

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