Article

Clarification of the clinical significance of an intron variant in a case of Peutz–Jeghers syndrome with abnormal RNA splicing of STK11

2024-04-08

Abstract excerpt

<title>Abstract</title> <p>Peutz–Jeghers syndrome is an autosomal dominant disease characterized by intestinal polyposis, mucocutaneous pigmentation, and an increased risk of various types of cancer. Germline mutations in <italic>STK11</italic> (<italic>LKB1</italic>), which encodes serine/threonine kinase 11, have been identified as the major cause of Peutz–Jeghers syndrome. Here, we detected a rare variant of u...

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Literature Corpus work: 11ff2ecb-ede8-5309-bd6a-10379d755c75
DOI: 10.21203/rs.3.rs-4199683/v1

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