Parafibromin-deficient (HPT-JT Type, CDC73 Mutated) Parathyroid Tumors Demonstrate Distinctive Morphologic Features

The gene CDC73 (previously known as HRPT2) encodes the protein parafibromin. Biallelic mutation of CDC73 is strongly associated with malignancy in parathyroid tumors. Heterozygous germline mutations cause hyperparathyroidism jaw tumor syndrome,which is associated with a high life-time risk of parath...

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Detalles Bibliográficos
Autores principales: Gill, Anthony J., Lim, Grace, Cheung, Veronica K.Y., Andrici, Juliana, Perry-Keene, Joanna L., Paik, Julie, Sioson, Loretta, Clarkson, Adele, Sheen, Amy, Luxford, Catherine, Elston, Marianne S., Meyer-Rochow, Goswin Y., Nano, M. Teresa, Kruijff, Schelto, Engelsman, Anton F., Sywak, Mark, Sidhu, Stanley B., Delbridge, Leigh W., Robinson, Bruce G., Marsh, Deborah J., Toon, Christopher W., Chou, Angela, Clifton-Bligh, Roderick J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health, Inc 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296846/
https://www.ncbi.nlm.nih.gov/pubmed/29324469
http://dx.doi.org/10.1097/PAS.0000000000001017

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