Unusual phenotypes in patients with a pathogenic germline variant in DICER1

Pathogenic germline DICER1 variants are associated with pleuropulmonary blastoma, multinodular goiter, embryonal rhabdomyosarcoma and other tumour types, while mosaic missense DICER1 variants in the RNase IIIb domain are linked to cause GLOW (global developmental delay, lung cysts, overgrowth, and W...

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Detalles Bibliográficos
Autores principales: Venger, Kateryna, Elbracht, Miriam, Carlens, Julia, Deutz, Peter, Zeppernick, Felix, Lassay, Lisa, Kratz, Christian, Zenker, Martin, Kim, Jung, Stewart, Douglas R., Wieland, Ilse, Schultz, Kris Ann P., Schwerk, Nicolaus, Kurth, Ingo, Kontny, Udo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2021
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9743360/
https://www.ncbi.nlm.nih.gov/pubmed/34331184
http://dx.doi.org/10.1007/s10689-021-00271-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9743360/
https://www.ncbi.nlm.nih.gov/pubmed/34331184
http://dx.doi.org/10.1007/s10689-021-00271-z

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