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Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters

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Bibliographic Details
Published in:	Journal der Deutschen Dermatologischen Gesellschaft 2019-07, Vol.17 (7), p.742-745
Main Authors:	Seidl‐Philipp, Magdalena, Schossig, Anna Sarah, Moosbrugger‐Martinz, Verena, Zschocke, Johannes, Schmuth, Matthias, Gruber, Robert
Format:	Article
Language:	English
Subjects:	Adult Austria Epidermis - pathology Epidermis - ultrastructure Female Genes, Recessive Humans Ichthyosiform Erythroderma, Congenital - genetics Ichthyosiform Erythroderma, Congenital - pathology Ichthyosis Ichthyosis, Lamellar - genetics Ichthyosis, Lamellar - pathology Missense mutation Mutation, Missense Oxidoreductases - genetics Siblings
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