PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement?
Abstract Background We report a three-year-old girl with a potentially unique phenotype of perinatal onset and neurovascular features who was found to have PAMI syndrome. We also compare her case to those previously reported and review the differences between the PSTPIP1-associated inflammatory dise...
| Những tác giả chính: | , , |
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| Định dạng: | Bài viết |
| Ngôn ngữ: | English |
| Được phát hành: |
BMC
2022-07-01
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| Loạt: | Pediatric Rheumatology Online Journal |
| Những chủ đề: | |
| Truy cập trực tuyến: | https://doi.org/10.1186/s12969-022-00707-5 |