Clinical and genetic diagnosis of Cowden syndrome: A case report of a rare PTEN germline variant and diverse clinical presentation

Cowden syndrome is a rare autosomal dominant disease characterized by the development of hamartomas and increased risks of other tumors, including breast, thyroid, and uterine cancers. Most patients with Cowden syndrome show mutations of the phosphatase and tensin homolog (PTEN) gene on chromosome 1...

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Detalles Bibliográficos
Autores principales: Arai, Hironori, Akagi, Kiwamu, Nakagawa, Ayako, Onai, Yasuhide, Utsu, Yoshikazu, Masuda, Shinichi, Aotsuka, Nobuyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
5700
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829268/
https://www.ncbi.nlm.nih.gov/pubmed/36607858
http://dx.doi.org/10.1097/MD.0000000000032572

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829268/
https://www.ncbi.nlm.nih.gov/pubmed/36607858
http://dx.doi.org/10.1097/MD.0000000000032572

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