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A novel c.59C>T variant of the HSD17B10 gene as a possible cause of HSD10 mitochondrial disease with hepatic dysfunction: a case report and review of the literature

2024-04-29

Abstract excerpt

<title>Abstract</title> <p>Background Pathogenic <italic>HSD17B10</italic> gene variants cause HSD10 mitochondrial disease (HSD10 MD), which results in a wide spectrum of symptoms ranging from mild to severe. Typical symptoms include intellectual disability, choreoathetosis, cardiomyopathy, neurodegeneration, and abnormal behavior. This study aimed to investigate a novel c.59C > T variant of the <italic>HSD17B10...

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Literature Corpus work
5887e25d-7397-5e2a-b2aa-021be5221d26
DOI
10.21203/rs.3.rs-3924486/v1
Open publication

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