A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN. [electronic resource]
- The British journal of dermatology 02 2018
- 502-508 p. digital
Publication Type: Journal Article
1365-2133
10.1111/bjd.16000 doi
Adult Amyloid Precursor Protein Secretases--genetics Female Founder Effect Hidradenitis Suppurativa--genetics Humans Hyperpigmentation--genetics Male Membrane Proteins--genetics Mutation--genetics Phenotype Receptors, Notch--genetics Signal Transduction--genetics Skin Diseases, Genetic--genetics Skin Diseases, Papulosquamous--genetics Young Adult