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STK11 Causative Variants and Copy Number Variations Identified in Thai Patients With Peutz-Jeghers Syndrome

Introduction Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder caused by germline mutations in the serine-threonine kinase 11 (STK11) tumor suppressor gene. This syndrome is characterized by hamartomatous gastrointestinal polyps, mucocutaneous melanin pigmentation, and a h...

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Detalles Bibliográficos
Autores principales: Chiraphapphaiboon, Wannasiri, Thongnoppakhun, Wanna, Limjindaporn, Thawornchai, Sawasdichai, Sunisa, Roothumnong, Ekkapong, Prangphan, Kanjana, Pamornpol, Benjaporn, Limwongse, Chanin, Pithukpakorn, Manop
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9983355/
https://www.ncbi.nlm.nih.gov/pubmed/36874343
http://dx.doi.org/10.7759/cureus.34495