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...

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Detalles Bibliográficos
Autores principales: Tovaglieri, Nicola, Russo, Silvia, Micaglio, Emanuele, Corcelli, Angela, Lobasso, Simona
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
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

Internet

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

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