Article

A new point mutation in SIX1 causes Branchio-oto syndrome, thymoma and pure red cell aplasia via mitochondrial apoptosis

2021-05-03

Abstract excerpt

<title>Abstract</title> <p>A patient was admitted to the hospital with thymoma, branchio-oto syndrome and pure red aplastic anemia. He had both <italic>Six1</italic> and mitochondrial mutations. The <italic>Six1</italic> gene has been linked to branchio-oto-renal spectrum disorder and malignant tumors. Additionally, mitochondrial mutations are known to cause anemia as well. To this end, we designed experiments to...

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Literature Corpus work: 796329cd-0074-52ba-a41b-e01df42cce04
DOI: 10.21203/rs.3.rs-364292/v1

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