ABCA12 mutations and autosomal recessive
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Masashi Akiyama
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Article
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2010
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John Wiley and Sons
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English
β 341 KB
Mutations in ABCA12 have been described in autosomal recessive congenital ichthyoses (ARCI) including harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). HI shows the most severe phenotype. CIE and LI are clinically characterized by fine, whitish sca