Journal article
The clinical impact of copy number variants in inherited bone marrow failure syndromes
Abstract
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 play in patients evaluated for a suspected diagnosis of inherited bone marrow failure syndromes. Clinical and genetic data of 323 patients from the …
Authors
Waespe N; Dhanraj S; Wahala M; Tsangaris E; Enbar T; Zlateska B; Li H; Klaassen RJ; Fernandez CV; Cuvelier GDE
Journal
npj Genomic Medicine, Vol. 2, No. 1,
Publisher
Springer Nature
Publication Date
May 10, 2017
DOI
10.1038/s41525-017-0019-2
ISSN
2056-7944