A novel pathogenic variant in PSTPIP1 highlights the diversity of PSTPIP1-associated disorders.
The article focuses on a novel variant of the phosphatase interacting protein 1 (PSTPIP1) gene, specifically the H234Q variant, which expands the understanding of PSTPIP1-associated disorders and suggests the potential efficacy of JAK inhibitor therapy. The case study details a 42-year-old Canadian...
| Publicado en: | Rheumatology Vol. 65; no. 1; pp. 1 - 6 |
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| Autores principales: | , , , , , |
| Formato: | case study letter pictorial tables/charts Journal Article |
| Publicado: |
Oxford University Press / USA
Jan2026
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| Acceso en línea: | Ver este registro en EBSCOhost |