A novel c.671_682del NCSTN variant in a family with hidradenitis suppurativa: a pilot study

Clin Exp Dermatol. 2021 Oct;46(7):1306-1308. doi: 10.1111/ced.14677. Epub 2021 May 27.

Authors

D Mintoff¹, N P Pace^{2

3}, P Bauer⁴, I Borg^{2

3

5}

Affiliations

¹ Department of Dermatology, Mater Dei Hospital, Malta.
² Centre for Molecular Medicine and Biobanking, Faculty of Medicine and Surgery, University of Malta, Malta.
³ Department of Pathology, Faculty of Medicine and Surgery, University of Malta, Malta.
⁴ CENTOGENE GmbH, Rostock, Germany.
⁵ Medical Genetics Unit, Department of Pathology, Mater Dei Hospital, Malta.

PMID: 33852739
DOI: 10.1111/ced.14677

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Amyloid Precursor Protein Secretases / chemistry*
Amyloid Precursor Protein Secretases / genetics
Female
Hidradenitis Suppurativa / genetics*
Humans
Male
Membrane Glycoproteins / chemistry
Membrane Glycoproteins / genetics*
Middle Aged
Phenotype*
Pilot Projects
Sequence Deletion

Substances

Membrane Glycoproteins
nicastrin protein
Amyloid Precursor Protein Secretases