Intra- and Interfamilial Phenotype Variability Associated with Mutations in γ-Secretase Subunit-Encoding PSENEN

J Invest Dermatol. 2018 May;138(5):1215-1218. doi: 10.1016/j.jid.2017.09.050. Epub 2017 Nov 11.

Authors

Jorge Frank¹, Damian J Ralser², Regina C Betz²

Affiliations

¹ Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, Göttingen, Germany. Electronic address: jorge.frank@med.uni-goettingen.de.
² Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.

PMID: 29138052
DOI: 10.1016/j.jid.2017.09.050

No abstract available

Keywords: AI; DDD; Dowling-Degos disease; acne inversa.

Publication types

Comment

MeSH terms

Amyloid Precursor Protein Secretases / genetics*
Dichlorodiphenyldichloroethane
Hidradenitis Suppurativa*
Humans
Hyperpigmentation
Membrane Proteins / genetics
Mutation
Phenotype
Skin Diseases, Genetic
Skin Diseases, Papulosquamous

Substances

Membrane Proteins
PSENEN protein, human
Amyloid Precursor Protein Secretases
Dichlorodiphenyldichloroethane

Supplementary concepts

Dowling-Degos Disease