@article{BallinHotzBourratetal.2019,
  author    = {Nadja Ballin and Alrun Hotz and Emmanuelle Bourrat and Julia K{\"u}sel and Vinzenz Oji and Bakar Bouadjar and Davide Brognoli and Geoffroy Hickman and Lisa Heinz and Pierre Vabres and Slaheddine Marrakchi and St{\´e}phanie Leclerc-Mercier and Alan Irvine and Gianluca Tadini and Henning Hamm and Cristina Has and Ulrike Blume-Peytavi and Diana Mitter and Marina Reitenbach and Ingrid Hausser and Andreas D. Zimmer and Svenja Alter and Judith Fischer},
  title     = {Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4},
  journal   = {Human Mutation},
  volume    = {40},
  number    = {12},
  doi       = {10.1002/humu.23883},
  year      = {2019},
}