Case report: A novel c.1842_1845dup mutation of ETFDH in two Chinese siblings with multiple acyl-CoA dehydrogenase deficiency

This article reports the characterization of two siblings diagnosed with late-onset multiple Acyl-CoA dehydrogenase deficiency (MADD) caused by mutations in electron transfer flavoprotein(ETF)-ubiquinone oxidoreductase (ETF-QO) (ETFDH) gene. Whole exome sequencing (WES) was performed in the proband&...

Descripción completa

Detalles Bibliográficos
Autores principales: Yuan, Gaopin, Zhang, Xiaohong, Chen, Tingli, Lin, Jiansheng
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/PMC9845722/
https://www.ncbi.nlm.nih.gov/pubmed/36683804
http://dx.doi.org/10.3389/fped.2022.1038440

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9845722/
https://www.ncbi.nlm.nih.gov/pubmed/36683804
http://dx.doi.org/10.3389/fped.2022.1038440

Ejemplares similares