Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2.

Leonie Frommherz,Katalin Komlosi,Charlotte Hewel,Julia Kopp, Malin Dewenter,Andreas Zimmer,Oliver Bartsch,Matthias Linke,Kristin Technau-Hafsi,Susanne Gerber,Judith Fischer,Cristina Has

Journal of the European Academy of Dermatology and Venereology : JEADV（2023）

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摘要

Altogether, we show that a type of autosomal dominant acral ichthyosis is most probably caused by an amino acid substitution in the C-terminus of keratin 2.

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关键词

acral lamellar ichthyosis,keratin

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