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...
主要な著者: | , , , , , , , , , |
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フォーマット: | 論文 |
言語: | English |
出版事項: |
Frontiers Media S.A.
2024-08-01
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シリーズ: | Frontiers in Genetics |
主題: | |
オンライン・アクセス: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1421952/full |