Granulocyte morphological abnormalities and molecular diagnosis of SRP54 deficiency in severe congenital neutropenia
- 1 January 2025
- journal article
- case report
- Published by Wiley in Pediatrics International
- Vol. 67 (1) , e15881
Abstract
No abstract availableThis publication has 3 references indexed in Scilit:
- The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of ImmunityJournal of Clinical Immunology, 2022
- Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndromeBlood, 2018
- Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like featuresJournal of Clinical Investigation, 2017