A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation

被引：5

作者：

Kusakawa, Moe ^{[1
,2
]}

Sato, Takeshi ^{[2
]}

Hosoda, Ai ^{[1
]}

Araki, Eriko ^{[1
]}

Matsuzaki, Yohei ^{[1
]}

Yamashita, Yukio ^{[1
]}

Ishihara, Jun ^{[1
]}

Inagaki, Yoshinori ^{[3
]}

Uchida, Noboru ^{[2
]}

Ishii, Tomohiro ^{[2
]}

Hasegawa, Tomonobu ^{[2
]}

机构：

[1] Yokohama Municipal Citizens Hosp, Dept Pediat, Hodogaya Ku, 56 Okazawa Cho, Yokohama, Kanagawa, Japan

[2] Keio Univ, Sch Med, Dept Pediat, Shinjuku Ku, 35 Shinanomachi, Tokyo, Japan

[3] Kanagawa Childrens Med Ctr, Dept Neonatol, Minami Ku, 2-138-4 Mutsukawa, Yokohama, Kanagawa, Japan

来源：

HUMAN GENOME VARIATION | 2019年 / 6卷 / 1期

关键词：

ARCH;

D O I：

10.1038/s41439-019-0087-1

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

HDR syndrome (OMIM #146255) is caused by haploinsufficiency of the GATA3 gene. A vascular ring has not been reported in patients with GATA3-associated HDR syndrome. We report a neonatal case of HDR syndrome and a vascular ring that were possibly due to a novel frameshift mutation in the GATA3 gene.

引用

页数：2

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