Article
Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms.
Blood advances - 9 Jan 2018
Marsh Judith C W, Gutierrez-Rodrigues Fernanda, Cooper James, Jiang Jie, Gandhi Shreyans, Kajigaya Sachiko, Feng Xingmin, Ibanez Maria Del Pilar F, Donaires Flávia S, Lopes da Silva João P, Li Zejuan, Das Soma, Ibanez Maria, Smith Alexander E, Lea Nicholas, Best Steven, Ireland Robin, Kulasekararaj Austin G, McLornan Donal P, Pagliuca Anthony, Callebaut Isabelle, Young Neal S, Calado Rodrigo T, Townsley Danielle M, Mufti Ghulam J
Abstract excerpt
Biallelic germline mutations in RTEL1 (regulator of telomere elongation helicase 1) result in pathologic telomere erosion and cause dyskeratosis congenita. However, the role of RTEL1 mutations in other bone marrow failure (BMF) syndromes and myeloid neoplasms, and the contribution of monoallelic RTEL1 mutations to disease development are not well defined. We screened 516 patients for germline mutations in...
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