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Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome
BACKGROUND: Barth 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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10467424/ https://www.ncbi.nlm.nih.gov/pubmed/37654687 http://dx.doi.org/10.3389/fped.2023.1250772 |