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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Main Authors: 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
Format: article
Language:EN
Published: Nature Portfolio 2017
Subjects:
R
Online Access:https://doaj.org/article/fab055366f7246f79c31483ee2eaa142
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