Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma

Somatic loss of function mutations in cohesin genes are frequently associated with various cancer types, while cohesin disruption in the germline causes cohesinopathies such as Cornelia-de-Lange syndrome (CdLS). Here, we present the discovery of a recurrent heterozygous RAD21 germline aberration at...

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Detalles Bibliográficos
Autores principales: Schedel, Anne, Friedrich, Ulrike Anne, Morcos, Mina N. F., Wagener, Rabea, Mehtonen, Juha, Watrin, Titus, Saitta, Claudia, Brozou, Triantafyllia, Michler, Pia, Walter, Carolin, Försti, Asta, Baksi, Arka, Menzel, Maria, Horak, Peter, Paramasivam, Nagarajan, Fazio, Grazia, Autry, Robert J, Fröhling, Stefan, Suttorp, Meinolf, Gertzen, Christoph, Gohlke, Holger, Bhatia, Sanil, Wadt, Karin, Schmiegelow, Kjeld, Dugas, Martin, Richter, Daniela, Glimm, Hanno, Heinäniemi, Merja, Jessberger, Rolf, Cazzaniga, Gianni, Borkhardt, Arndt, Hauer, Julia, Auer, Franziska
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9106003/
https://www.ncbi.nlm.nih.gov/pubmed/35563565
http://dx.doi.org/10.3390/ijms23095174

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