Genetical, Clinical, and Functional Analysis of a Large International Cohort of Patients with Autosomal Recessive Congenital Ichthyosis Due to Mutations in NIPAL4

by Nadja Ballin, Alrun Göntje Hotz, Emmanuelle Bourrat, Julia Küsel, Vinzenz Oji, Bakar Bouadjar, Davide Brognoli, Geoffroy Hickman, Lisa Heinz, Pierre Vabres, Slaheddine Marrakchi, Stéphanie Leclerc-Mercier, Alan Irvine, Gianluca Tadini, Henning Hamm, Cristina Has, Ulrike Blume-Peytavi, Diana Mitter, Marina Reitenbach, Ingrid Haußer-Siller, Andreas D. Zimmer, Svenja Alter, Judith Fischer · 2019