Article
[Clinical and genetic features of dyskeratosis congenital with bone marrow failure in eight patients].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Mar 2016
Wan Y, An W B, Zhang J Y, Zhang J L, Zhang R R, Zhu S, Chang L X, Zhang Y C, Liu F, Yang W Y, Chen X J, Zou Y, Chen Y M, Zhu X F
Abstract excerpt
OBJECTIVE: To summary clinical and genetic features of childhood dyskeratosis congenital (DC) patients with bone marrow failure. METHODS: The clinical data of 8 DC patients with bone marrow failure diagnosed between September 2010 and September 2015 were collected. Whole exons with flanking regions of the 16 telomere-related genes, including DKC1, TERC, TERT, NOP10, NHP2, TINF2 and so on, were analyzed by next...
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