Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family

Li-Fraumeni syndrome (LFS) is an inherited, autosomal-dominant condition that predisposes individuals to a wide-spectrum of tumors at an early age. Approximately 70% of families with classic LFS have pathogenic variants in the tumor suppressor gene TP53 that disrupt protein function or stability. Wh...

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Detalles Bibliográficos
Publicado en:NPJ Genom Med
Main Authors: AlHarbi, Musa, Mubarak, Nahla, AlMubarak, Latifa, Aljelaify, Rasha, AlSaeed, Mariam, Almutairi, Amal, AlJabarat, Weal, Alqubaishi, Fatimah, Al-Subaie, Lamia, AlTassan, Nada, Neben, Cynthia L., Zhou, Alicia Y., Abedalthagafi, Malak
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group UK 2018
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6300601/
https://ncbi.nlm.nih.gov/pubmed/30588330
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-018-0074-3
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