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Article

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.

Genes - 9 Jan 2021

Hotz Alrun, Kopp Julia, Bourrat Emmanuelle, Oji Vinzenz, Komlosi Katalin, Giehl Kathrin, Bouadjar Bakar, Bygum Anette, Tantcheva-Poor Iliana, Hellström Pigg Maritta, Has Cristina, Yang Zhou, Irvine Alan D, Betz Regina C, Zambruno Giovanna, Tadini Gianluca, Süßmuth Kira, Gruber Robert, Schmuth Matthias, Mazereeuw-Hautier Juliette, Jonca Natalie, Guez Sophie, Brena Michela, Hernandez-Martin Angela, van den Akker Peter, Bolling Maria C, Hannula-Jouppi Katariina, Zimmer Andreas D, Alter Svenja, Vahlquist Anders, Fischer Judith

Abstract excerpt

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: TGM1, ALOX12B, ALOXE3, NIPAL4, CYP4F22, ABCA12, PNPLA1, CERS3, SDR9C7, and SULT2B1. The main focus of this report is the mutational spectrum of...

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PMID: 33435499
DOI: 10.3390/genes12010080
PMCID: PMC7826849

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Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.PMID 33435499Read ↗

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