Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study

Juvenile polyposis syndrome (JPS) is a hereditary hamartomatous polyposis syndrome characterized by gastrointestinal juvenile polyps and increased risk of gastrointestinal cancer. Germline pathogenic variants are detected in SMAD4 or BMPR1A, however in a significant number of patients with JPS, the...

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Detalles Bibliográficos
Autores principales: Jelsig, Anne Marie, van Overeem Hansen, Thomas, Gede, Lene Bjerring, Qvist, Niels, Christensen, Lise-Lotte, Lautrup, Charlotte Kvist, Ljungmann, Ken, Christensen, Louise Torp, Rønlund, Karina, Tørring, Pernille Mathiesen, Bertelsen, Birgitte, Sunde, Lone, Karstensen, John Gásdal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10542306/
https://www.ncbi.nlm.nih.gov/pubmed/37354305
http://dx.doi.org/10.1007/s10689-023-00338-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10542306/
https://www.ncbi.nlm.nih.gov/pubmed/37354305
http://dx.doi.org/10.1007/s10689-023-00338-z

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