Meta-Analysis of Mutations in <i>ALOX12B</i> or <i>ALOXE3</i> Identified in a Large Cohort of 224 Patients

Meta-Analysis of Mutations in <i>ALOX12B</i> or <i>ALOXE3</i> Identified in a Large Cohort of 224 Patients

The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. To date mutations in ten genes have been identified to cause ARCI: <i>TGM1</i>, <...

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Main Authors: Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Katalin Komlosi, Kathrin Giehl, Bakar Bouadjar, Anette Bygum, Iliana Tantcheva-Poor, Maritta Hellström Pigg, Cristina Has, Zhou Yang, Alan D. Irvine, Regina C. Betz, Giovanna Zambruno, Gianluca Tadini, Kira Süßmuth, Robert Gruber, Matthias Schmuth, Juliette Mazereeuw-Hautier, Natalie Jonca, Sophie Guez, Michela Brena, Angela Hernandez-Martin, Peter van den Akker, Maria C. Bolling, Katariina Hannula-Jouppi, Andreas D. Zimmer, Svenja Alter, Anders Vahlquist, Judith Fischer
Format: Article
Language:English
Published: MDPI AG 2021-01-01
Series:Genes
Subjects:
ALOX12B
ALOXE3
ARCI
ichthyosis
Online Access:https://www.mdpi.com/2073-4425/12/1/80

Internet

https://www.mdpi.com/2073-4425/12/1/80

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