A novel pathogenic splice site variation in STK11 gene results in Peutz–Jeghers syndrome
Abstract Background 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 kin...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2021-08-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Online Access: | https://doi.org/10.1002/mgg3.1729 |