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Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms Tumor in PIK3CA-related overgrowth spectrum (PROS)

PURPOSE: We set out to facilitate the molecular diagnosis of patients with PIK3CA-related overgrowth spectrum (PROS), a heterogeneous somatic disorder characterized by variable presentations of segmental overgrowth, vascular malformations, skin lesions, and nephroblastomatosis, rare precursor lesion...

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Detalles Bibliográficos
Autores principales: Waberski, Marta Biderman, Lindhurst, Marjorie, Keppler-Noreuil, Kim M., Sapp, Julie C., Baker, Laura, Gripp, Karen W., Adams, Denise M., Biesecker, Leslie G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9365240/
https://www.ncbi.nlm.nih.gov/pubmed/29300373
http://dx.doi.org/10.1038/gim.2017.228