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A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1
Pontén, Emeli, Frisk, Sofia, Taylan, Fulya, Vaz, Raquel, Wessman, Sandra, de Kock, Leanne, Pal, Niklas, Foulkes, William D, Lagerstedt-Robinson, Kristina, Nordgren, AnnJournal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2020-107385
Date:
November, 2020
File:
PDF, 635 KB
2020