Article
Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature.
Clinical and experimental dermatology - 1 Jan 2015
Liu J-J, Yuan Y-Y, Zhang X-Q, Li Z-M, Xu Y-S, Gao S-M, Cai J-F, Shao X-H, Lin X-H, Li B-X
Abstract excerpt
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of diseases of keratinization, characterized primarily by abnormal skin scaling over the whole body surface. Recently, ARCI has been designated to include the major forms of lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE) and harlequin ichthyosis. The first two conditions are the most common major clinical...
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