Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewed
Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa
David J. Morales-Heil, Li Hua Cao, Cheryl M. Sweeney…·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.
6 citations