Article

SUFU: A potential novel gene responsible for Lhermitte Duclos disease

2024-04-24

Abstract excerpt

<title>Abstract</title> <p>Lhermitte-Duclos disease (LDD) is a rare dysplastic gangliocytoma of the cerebellum, typically presenting as a hamartomatous lesion in the posterior fossa. <italic>PTEN</italic> and the PI3K/AKT/mTOR pathway are involved in the pathogenesis of LDD. We present a case of a patient who incidentally was detected with LDD. A novel, pathogenic, heterozygous, de novo, splice site variant c.183...

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Literature Corpus work: ba427a6d-d853-5cc4-9169-791a656e514b
DOI: 10.21203/rs.3.rs-4271310/v1

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