FRI256 The Clinical Impacts Of Bi-allelic Germline Pathogenic Variant In TP53 In Two Patients With Li-Fraumeni Syndrome

Disclosure: V. Petry: None. D. Cohn: None. R.R. Oppenheimer: None. M.D. Estevez-Diz: None. A. Latronico: None. B.B. Mendonca: None. M.Q. Almeida: None. M.C. Fragoso: None. Background: Li-Fraumeni syndrome is an autosomal dominant cancer predisposition due to a heterozygous germline TP53 mutation. Th...

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Detalles Bibliográficos
Autores principales: Petry, Vanessa, Cohn, Daniela, Oppenheimer, Romulo R V, Estevez-Diz, Maria D P, Latronico, Ana Claudia, Mendonca, Berenice Bilharinho, Almeida, Madson Q, Barisson Villares Fragoso, Maria Candida
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Adrenal (Excluding Mineralocorticoids)
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10555297/
http://dx.doi.org/10.1210/jendso/bvad114.251

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