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A novel pathogenic splice site variation in STK11 gene results in Peutz–Jeghers syndrome
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 kinase STK1...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404226/ https://www.ncbi.nlm.nih.gov/pubmed/34080793 http://dx.doi.org/10.1002/mgg3.1729 |