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Published in 2024 at "EMBO Reports"
DOI: 10.1038/s44319-025-00393-w
Abstract: Barth syndrome (BTHS) is a rare genetic disease caused by mutations in the TAFAZZIN gene. It is characterized by neutropenia, cardiomyopathy and skeletal myopathy. Neutropenia in BTHS is associated with life-threatening infections, yet there is…
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Keywords:
tafazzin regulates;
neutrophil maturation;
response;
tafazzin ... See more keywords