Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis

DICER1 syndrome is an inherited condition associated with an increased risk of developing hamartomatous and neoplastic lesions in diverse organs, mainly at early ages. Germline pathogenic variants in DICER1 cause this condition. Detecting a variant of uncertain significance in DICER1 or finding unco...

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Detalles Bibliográficos
Autores principales: Apellaniz-Ruiz, Maria, Sabbaghian, Nelly, Chong, Anne-Laure, de Kock, Leanne, Cetinkaya, Semra, Bayramoğlu, Elvan, Dinjens, Winand N. M., McCluggage, W. Glenn, Wagner, Anja, Yilmaz, Aslihan Arasli, Foulkes, William D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2023
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10541835/
https://www.ncbi.nlm.nih.gov/pubmed/37248399
http://dx.doi.org/10.1007/s10689-023-00336-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10541835/
https://www.ncbi.nlm.nih.gov/pubmed/37248399
http://dx.doi.org/10.1007/s10689-023-00336-1

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