Novel mutation of the TINF2 gene resulting in severe phenotypic Revesz syndrome

被引：3

作者：

Sakwit, Anusak ^{[1
]}

Rojanaporn, Duangnate ^{[2
]}

Mekjaruskul, Pimsiri ^{[3
]}

Suriyajakryuththana, Wiboon ^{[4
]}

Sasanakul, Werasak ^{[1
]}

Sirachainan, Nongnuch ^{[1
]}

机构：

[1] Mahidol Univ, Ramathibodi Hosp, Fac Med, Dept Pediat, 270 Rama VI Rd, Bangkok 10400, Thailand

[2] Mahidol Univ, Ramathibodi Hosp, Fac Med, Dept Ophthalmol, Bangkok, Thailand

[3] Maharat Nakhon Ratchasima Hosp, Dept Pediat, Nakhon Ratchasima, Thailand

[4] Mahidol Univ, Ramathibodi Hosp, Fac Med, Dept Radiol, Bangkok, Thailand

来源：

PEDIATRIC BLOOD & CANCER | 2019年 / 66卷 / 03期

关键词：

bone marrow failure; dyskeratosis congenita; Revesz syndrome; DYSKERATOSIS-CONGENITA; SHELTERIN; COMPLEX;

D O I：

10.1002/pbc.27557

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

引用

页数：2

共 8 条

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