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Peutz–Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disease resulting in multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of various types of cancer, and is caused… Click to show full abstract
Peutz–Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disease resulting in multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of various types of cancer, and is caused by variations in the serine/threonine protein kinase STK11 (LKB1).
Keywords:
jeghers syndrome;
novel pathogenic;
splice site;
site variation;
pathogenic splice;
peutz jeghers
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2021
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2021
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!