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Article

PAMI syndrome: A rare cause that can be easily misdiagnosed.

American journal of medical genetics. Part A - 1 Oct 2021

Xu Xue-Mei, Huang Hua, Ding Fei, Yang Zhen, Wang Jian, Jin Yan-Liang

Abstract excerpt

PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome caused by mutations in PSTPIP1 is a rare inflammatory disorder that can be easily misdiagnosed. It is characterized by anemia, arthritis, cutaneous inflammation, recurrent infections, growth failure, hepatosplenomegaly, lymphadenopathy, hyperzincemia/hypercalprotectinemia, neutropenia, thrombocytopenia, and elevated inflammatory...

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Identifiers

PMID: 34047005
DOI: 10.1002/ajmg.a.62367

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PAMI syndrome: A rare cause that can be easily misdiagnosed.PMID 34047005Read ↗

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