Article
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.
Journal of medical genetics - 1 Sept 2015
Ghemlas Ibrahim, Li Hongbing, Zlateska Bozana, Klaassen Robert, Fernandez Conrad V, Yanofsky Rochelle A, Wu John, Pastore Yves, Silva Mariana, Lipton Jeff H, Brossard Josee, Michon Bruno, Abish Sharon, Steele MacGregor, Sinha Roona, Belletrutti Mark, Breakey Vicky R, Jardine Lawrence, Goodyear Lisa, Sung Lillian, Dhanraj Santhosh, Reble Emma, Wagner Amanda, Beyene Joseph, Ray Peter, Meyn Stephen, Cada Michaela, Dror Yigal
Abstract excerpt
BACKGROUND: Phenotypic overlap among the inherited bone marrow failure syndromes (IBMFSs) frequently limits the ability to establish a diagnosis based solely on clinical features. >70 IBMFS genes have been identified, which often renders genetic testing prolonged and costly. Since correct diagnosis, treatment and cancer surveillance often depend on identifying the mutated gene, strategies that enable timely...
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