A case of Wiedemann-Steiner syndrome caused by a novel KMT2A c.8862del variant

被引：0
|
作者：
Nishida, Hikaru [1 ]
Imagawa, Eri [1 ]
Tsunogai, Toshiki [1 ]
Saijo, Naoya [2 ]
Ogata, Jin [1 ]
Sakurai, Ken [1 ]
Oishi, Kimihiko [1 ]
机构：
[1] Jikei Univ, Sch Med, Dept Pediat, 3-25-8 Nishi Shimbashi,Minato Ku, Tokyo 1058461, Japan
[2] Tohoku Univ, Grad Sch Med, Dept Pediat, Sendai, Japan
来源：
PEDIATRICS INTERNATIONAL | 2025年 / 67卷 / 01期
关键词：
chromatinopathies; frameshift variant; KMT2A; Wiedemann-Steiner syndrome;
D O I：
10.1111/ped.15873
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页数：3
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