Severe congenital thrombocytopenia and platelet dysfunction due to novel WAS gene mutation: case report
Wiskott-Aldrich syndrome (WAS), X-linked thrombocytopenia, and X-linked congenital neutropenia collectively are designated WAS-related disorders. All are attributable to pathogenic variants of the WAS protein (WASp) and present a broad spectrum of hematopoietic cellular defects that chiefly involve...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hygeia Press di Corridori Marinella
2022-12-01
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| Series: | Journal of Pediatric and Neonatal Individualized Medicine |
| Subjects: | |
| Online Access: | https://jpnim.com/index.php/jpnim/article/view/1218 |