PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome: A Systematic Review
PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome: A Systematic Review
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Publisher
Switzerland: MDPI AG
Journal title
Language
English
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Publisher
Switzerland: MDPI AG
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Scope and Contents
Contents
PSTPIP1 (proline-serine-threonine phosphatase-interactive protein 1)-associated myeloid-related proteinemia inflammatory (PAMI) syndrome, previously known as Hyperzincemia/Hypercalprotectinemia (Hz/Hc) syndrome, is a recently described, rare auto-inflammatory disorder caused by specific deleterious variants in the PSTPIP1 gene (p.E250K and p.E257K)...
Alternative Titles
Full title
PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome: A Systematic Review
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10454568
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10454568
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes14081655
