Atypical dyskeratosis congenita diagnosed using whole-exome sequencing

被引：2
|
作者：
Monoi, Ayaka [1 ]
Sugawa, Masahiro [1 ]
Kato, Motohiro [1 ,2 ]
Seki, Masafumi [1 ]
Yoshida, Kenichi [4 ]
Shiraishi, Yuichi [3 ]
Sakaguchi, Hirotoshi [5 ]
Ogawa, Seishi [4 ]
Takita, Junko [1 ]
机构：
[1] Univ Tokyo, Dept Pediat, Tokyo, Japan
[2] Univ Tokyo, Dept Cell Therapy & Transplantat Med, Tokyo, Japan
[3] Univ Tokyo, Inst Med Sci, Ctr Human Genome, Lab DNA Informat Anal, Tokyo, Japan
[4] Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, Japan
[5] Nagoya Univ, Dept Pediat, Nagoya, Aichi, Japan
来源：
PEDIATRICS INTERNATIONAL | 2017年 / 59卷 / 08期
关键词：
diskeratosis congenita; myelodysplastic syndrome; TINF2;
D O I：
10.1111/ped.13314
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：933 / 935
页数：3
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