PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement?

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 diseases (PA...

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Detalles Bibliográficos
Autores principales: Whiteside, Bethany Gillies, Titheradge, Hannah, Al-Abadi, Eslam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9288020/
https://www.ncbi.nlm.nih.gov/pubmed/35840971
http://dx.doi.org/10.1186/s12969-022-00707-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9288020/
https://www.ncbi.nlm.nih.gov/pubmed/35840971
http://dx.doi.org/10.1186/s12969-022-00707-5

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