A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN. [electronic resource]
Producer: 20190422Description: 502-508 p. digitalISSN:- 1365-2133
- 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
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Publication Type: Journal Article
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