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Nature Genetics|January 31, 2006
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgarisFrances J D Smith, Alan D Irvine, Ana Terron-Kwiatkowski, et al.The Journal of Investigative Dermatology|August 12, 2006
ABCA12 is the major harlequin ichthyosis geneAnna C Thomas, Tom Cullup, Elizabeth E Norgett, et al.Pediatric Dermatology|November 10, 2020
Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescentsAndrea L Zaenglein, Moise L Levy, Nicole S Stefanko, et al.American Journal of Human Genetics|March 10, 2005
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosisDavid P Kelsell, Elizabeth E Norgett, Harriet Unsworth, et al.Nature Genetics|March 22, 2006
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitisColin N A Palmer, Alan D Irvine, Ana Terron-Kwiatkowski, et al.Journal of the American Academy of Dermatology|July 21, 2010
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009Vinzenz Oji, Gianluca Tadini, Masashi Akiyama, et al.Pageof 6