- Article
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients
- Alrun Hotz,
- Julia Kopp,
- Emmanuelle Bourrat,
- Vinzenz Oji,
- Katalin Komlosi,
- Kathrin Giehl,
- Bakar Bouadjar,
- Anette Bygum,
- Iliana Tantcheva-Poor and
- Maritta Hellström Pigg
- + 21 authors
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 iden...