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

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

Blood disorders: impact of genomic structural variation Copy number variation in patients with inherited bone marrow failure syndromes (IBMFSs) is associated with more severe clinical symptoms. In addition to persistently low levels of red blood cells, white blood cells and/ or platelets, patients w...

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Autores principales: Nicolas Waespe, Santhosh Dhanraj, Manju Wahala, Elena Tsangaris, Tom Enbar, Bozana Zlateska, Hongbing Li, Robert J. Klaassen, Conrad V. Fernandez, Geoff D. E. Cuvelier, John K. Wu, Yves D. Pastore, Mariana Silva, Jeffrey H. Lipton, Joseé Brossard, Bruno Michon, Sharon Abish, MacGregor Steele, Roona Sinha, Mark J. Belletrutti, Vicky R. Breakey, Lawrence Jardine, Lisa Goodyear, Liat Kofler, Michaela Cada, Lillian Sung, Mary Shago, Stephen W. Scherer, Yigal Dror
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
Materias:
Medicine
R
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/fab055366f7246f79c31483ee2eaa142
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