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

页码：933 / 935

页数：3

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