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...
| Main Authors: | , , |
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| פורמט: | Article |
| שפה: | English |
| יצא לאור: |
BMC
2022-07-01
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| סדרה: | Pediatric Rheumatology Online Journal |
| נושאים: | |
| גישה מקוונת: | https://doi.org/10.1186/s12969-022-00707-5 |