Clarification of the clinical significance of an intron variant in a case of Peutz-Jeghers syndrome with abnormal RNA splicing of STK11
{{output}}
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 STK11 (LKB1), which encodes serine/threonine kinase 11, have bee... ...
