Article
Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis.
Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Jan 2017
Sekiya A, Kono M, Tsujiuchi H, Kobayashi T, Nomura T, Kitakawa M, Suzuki N, Yamanaka K, Sueki H, McLean W H I, Shimizu H, Akiyama M
Abstract excerpt
BACKGROUND: Mutations in FLG, which encodes profilaggrin, cause ichthyosis vulgaris (IV) and are an important predisposing factor for atopic dermatitis (AD). IV shows autosomal hemidominant (semidominant) inheritance, and patients with bi-allelic FLG mutations tend to have severe IV phenotypes. However, the effect of bi-allelic FLG mutations on AD incidence and severity remains a subject of controversy....
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