Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa

Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa

Summary: Hidradenitis suppurativa (HS) is a chronic, debilitating skin disease for which few treatment options are available. While most HS is sporadic, some rare kindred show a high-penetrance, autosomal-dominant inheritance. We wanted to identify rare variants that could contribute to HS risk in s...

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Bibliographic Details
Main Authors: David J. Morales-Heil, Li Cao, Cheryl Sweeney, Anna Malara, Frank Brown, Philip Milam, Milan Anadkat, Jessica Kaffenberger, Benjamin Kaffenberger, Peter Nagele, Brian Kirby, Elisha D.O. Roberson
Format: Article
Language:English
Published: Elsevier 2023-04-01
Series:HGG Advances
Subjects:
hidradenitis suppurativa
nicastrin
PSTPIP1
genetics
gamma-secretase
rare variants
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247723000192

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http://www.sciencedirect.com/science/article/pii/S2666247723000192

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