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

• मुख्य लेखकों: Gaopin Yuan (लेखक), Xiaohong Zhang (लेखक), Tingli Chen (लेखक), Jiansheng Lin (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Frontiers Media S.A., 2023-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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&...