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...
| المؤلفون الرئيسيون: | , , |
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| التنسيق: | مقال |
| اللغة: | English |
| منشور في: |
BMC
2022-07-01
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| سلاسل: | Pediatric Rheumatology Online Journal |
| الموضوعات: | |
| الوصول للمادة أونلاين: | https://doi.org/10.1186/s12969-022-00707-5 |