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Recurrent Acromegaly in a Patient With a CHEK2 Mutation

BACKGROUND/OBJECTIVE: CHEK2 is a cell-cycle checkpoint kinase and is part of the ATM-CHEK2-p53 cascade, which is protective against carcinogenesis. We describe a germline CHEK2 mutation in a patient with acromegaly and other tumors. CASE REPORT: We present a woman with a germline CHEK2∗ 110delC muta...

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Detalles Bibliográficos
Autores principales: Perosevic, Milica, Martinez-Lage, Maria, Swearingen, Brooke, Tritos, Nicholas A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association of Clinical Endocrinology 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8984513/
https://www.ncbi.nlm.nih.gov/pubmed/35415223
http://dx.doi.org/10.1016/j.aace.2021.10.006