A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1

BACKGROUND: Germline pathogenic variants in DICER1 cause DICER1 syndrome, an autosomal dominant, pleiotropic tumour predisposition syndrome with variable expressivity and reduced penetrance for specific dysplastic and neoplastic lesions. Recently, a syndrome with the acronym GLOW (Global development...

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Detalles Bibliográficos
Autores principales: Pontén, Emeli, Frisk, Sofia, Taylan, Fulya, Vaz, Raquel, Wessman, Sandra, de Kock, Leanne, Pal, Niklas, Foulkes, William D, Lagerstedt-Robinson, Kristina, Nordgren, Ann
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Cancer Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8788248/
https://www.ncbi.nlm.nih.gov/pubmed/33208384
http://dx.doi.org/10.1136/jmedgenet-2020-107385

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