Pavlovsky, M

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