Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome
BackgroundBarth syndrome is a rare genetic disease characterized by cardiomyopathy, skeletal muscle weakness, neutropenia, growth retardation and organic aciduria. This variable phenotype is caused by pathogenic hemizygous variants of the TAFAZZIN gene on the X chromosome, which impair metabolism of...
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Frontiers Media S.A.,
2023-08-01T00:00:00Z.
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