Maritta Hellström Pigg

A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population

M. Nordenskjöld, Kristina Lagerstedt-Robinson, E. Tham, 2022, PloS one.

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

J. Fischer, R. Betz, A. Irvine, 2021, Genes.

Drug‐Mediated Gene Regulation of Vitamin D3 Metabolism in Primary Human Dermal Fibroblasts

J. Gustafsson, J. Lundqvist, M. Norlin, 2017, Basic & clinical pharmacology & toxicology.

Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda.

M. Virtanen, A. Vahlquist, Lin-shu Zhao, 2014, Acta dermato-venereologica.

Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

K. Berggård, J. Fischer, R. Betz, 2023, Genes.

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26

A. Ameur, L. Alexandrov, S. Ekvall, 2017, Human Molecular Genetics.