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P02-006 - A novel PSTPIP1 mutation in PAPA syndromeDOI 10.1186/1546-0096-11-s1-a113
The expanding spectrum of clinical phenotypes associated with PSTPIP1 mutations: from PAPA to PAMI syndrome and beyond.Semantic proximity
PW02-018 - Impact of PSTPIP1 mutaions on clinical phenotypeSemantic proximity
A novel mutatioin in the PSTPIP1 gene is associated with an autoinflammatory disease distinct from classical PAPA syndromeSemantic proximity
P02-018 - PSTPIP1 gene mutations in periodic fever patientsSemantic proximity
Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review.Semantic proximity
Impaired podosome formation and invasive migration of macrophages from patients with a PSTPIP1 mutation and PAPA syndrome.Semantic proximity
Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome.Semantic proximity
A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement.Semantic proximity
PW03-009 – Genetics of PFAPA syndromeSemantic proximity
P02-016 - A novel PSMB8 mutation causing candle syndromeSemantic proximity
Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases.Semantic proximity
Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH): a new autoinflammatory syndrome associated with a novel mutation of the PSTPIP1 gene.Semantic proximity
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