A novel pathogenic splice site variation in STK11 gene results in Peutz–Jeghers syndrome
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DOI: 10.1002/mgg3.1729
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… read more here.
Keywords: jeghers syndrome; novel pathogenic; splice site; site variation ... See more keywords