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• Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP).

  Terrinoni A, Sala G, Bruno E, Pitolli C, Minieri M, Pieri M, Gambacurta A, Campione E, Belardi R, Bernardini S. Terrinoni A, et al. Int J Mol Sci. 2023 Sep 11;24(18):13962. doi: 10.3390/ijms241813962. Int J Mol Sci. 2023. PMID: 37762265 Free PMC article.
• Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis.

  Williams ML, Elias PM. Williams ML, et al. J Clin Invest. 1981 Dec;68(6):1404-10. doi: 10.1172/jci110391. J Clin Invest. 1981. PMID: 6947980 Free PMC article.
• Keratohyalin granules are heterogeneous in ridged and non-ridged human skin: evidence from anti-filaggrin immunogold labelling of normal skin and skin of autosomal dominant ichthyosis vulgaris patients.

  Günzel S, Weidenthaler B, Hausser I, Anton-Lamprecht I. Günzel S, et al. Arch Dermatol Res. 1991;283(7):421-32. doi: 10.1007/BF00371777. Arch Dermatol Res. 1991. PMID: 1724895
• Epidermolytic hyperkeratosis: clinical update.

  Peter Rout D, Nair A, Gupta A, Kumar P. Peter Rout D, et al. Clin Cosmet Investig Dermatol. 2019 May 8;12:333-344. doi: 10.2147/CCID.S166849. eCollection 2019. Clin Cosmet Investig Dermatol. 2019. PMID: 31190940 Free PMC article. Review.
• Elevated n-alkanes in congenital ichthyosiform erythroderma. Phenotypic differentiation of two types of autosomal recessive ichthyosis.

  Williams ML, Elias PM. Williams ML, et al. J Clin Invest. 1984 Jul;74(1):296-300. doi: 10.1172/JCI111415. J Clin Invest. 1984. PMID: 6736251 Free PMC article.