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PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review

BACKGROUND: PTEN hamartoma tumour syndrome (PHTS) is a rare hereditary disorder caused by germline pathogenic mutations in the PTEN gene. This study presents a case of PHTS referred for genetic evaluation due to multiple polyps in the rectosigmoid area, and provides a literature review of PHTS case...

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Detalles Bibliográficos
Autores principales: Rahmatinejad, Zahra, Goshayeshi, Ladan, Bergquist, Robert, Goshayeshi, Lena, Golabpour, Amin, Hoseini, Benyamin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10071641/
https://www.ncbi.nlm.nih.gov/pubmed/37016356
http://dx.doi.org/10.1186/s13000-023-01331-x