Case report: Clinical, genetic and immunological characterization of a novel XK variant in a patient with McLeod syndrome
Introduction: Pathogenic variants in the XK gene are associated with dysfunction or loss of XK protein leading to McLeod syndrome (MLS), a rare X-linked neuroacanthocytosis syndrome with multisystemic manifestation. Here we present clinical, genetic and immunological data on a patient originally adm...
| Main Authors: | , , , , , , , , , |
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| 格式: | Article |
| 語言: | English |
| 出版: |
Frontiers Media S.A.
2024-08-01
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| 叢編: | Frontiers in Genetics |
| 主題: | |
| 在線閱讀: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1421952/full |