The clinical impact of copy number variants in inherited bone marrow failure syndromes

Inherited bone marrow failure syndromes comprise a genetically heterogeneous group of diseases with hematopoietic failure and a wide array of physical malformations. Copy number variants were reported in some inherited bone marrow failure syndromes. It is unclear what impact copy number variants pla...

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Detalles Bibliográficos
Autores principales: Waespe, Nicolas, Dhanraj, Santhosh, Wahala, Manju, Tsangaris, Elena, Enbar, Tom, Zlateska, Bozana, Li, Hongbing, Klaassen, Robert J., Fernandez, Conrad V., Cuvelier, Geoff D. E., Wu, John K., Pastore, Yves D., Silva, Mariana, Lipton, Jeffrey H., Brossard, Joseé, Michon, Bruno, Abish, Sharon, Steele, MacGregor, Sinha, Roona, Belletrutti, Mark J., Breakey, Vicky R., Jardine, Lawrence, Goodyear, Lisa, Kofler, Liat, Cada, Michaela, Sung, Lillian, Shago, Mary, Scherer, Stephen W., Dror, Yigal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5498150/
https://www.ncbi.nlm.nih.gov/pubmed/28690869
http://dx.doi.org/10.1038/s41525-017-0019-2

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