Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa
David J. Morales-Heil, Li Hua Cao, Cheryl M. Sweeney, Anna Malara, Frank Brown, Philip B. Milam, Milan J. Anadkat, Jessica A. Kaffenberger, Benjamin Harris Kaffenberger, Peter Nägele, Brian Kirby, Elisha D. O. Roberson
The paper identifies rare missense variants in the SH3 domain of PSTPIP1 as significantly enriched in hidradenitis suppurativa patients, suggesting shared genetic risk with PSTPIP1-related syndromes.
Human Genetics and Genomics Advances · Mar 13, 2023Peer-reviewedGenetic & Genomic Medicine