The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management

Pathogenic germline exonuclease domain (ED) variants of POLE and POLD1 cause the Mendelian dominant condition polymerase proof-reading associated polyposis (PPAP). We aimed to describe the clinical features of all PPAP patients with probably pathogenic variants. We identified patients with a variant...

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Detalles Bibliográficos
Autores principales: Palles, Claire, Martin, Lynn, Domingo, Enric, Chegwidden, Laura, McGuire, Josh, Cuthill, Vicky, Heitzer, Ellen, Kerr, Rachel, Kerr, David, Kearsey, Stephen, Clark, Susan K., Tomlinson, Ian, Latchford, Andrew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8964588/
https://www.ncbi.nlm.nih.gov/pubmed/33948826
http://dx.doi.org/10.1007/s10689-021-00256-y

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