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Article

NCSTN In-Frame Deletion in Maltese Patients With Hidradenitis Suppurativa.

JAMA dermatology - 1 Sept 2023

Mintoff Dillon, Pace Nikolai Paul, Borg Isabella

Abstract excerpt

Importance: Hidradenitis suppurativa (HS) is a complex trait that has a monogenic etiology in a subset of patients. Variation in genes that encode proteins of the γ secretase complex, particularly NCSTN, account for few patients who exhibit familial forms of HS. Thus far, extensive genotype-phenotype correlations have been lacking. Objective: To establish the prevalence of the NCSTN:c.671_682del variant and...

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Identifiers

PMID: 37494055
DOI: 10.1001/jamadermatol.2023.2227
PMCID: PMC10372757

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