A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK

被引：11
|
作者：
Miyake, N. [1 ]
Inaba, M. [2 ]
Mizuno, S. [2 ]
Shiina, M. [3 ]
Imagawa, E. [1 ]
Miyatake, S. [1 ]
Nakashima, M. [1 ]
Mizuguchi, T. [1 ]
Takata, A. [1 ]
Ogata, K. [3 ]
Matsumoto, N. [1 ]
机构：
[1] Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, Japan
[2] Cent Hosp Kasugai, Dept Pediat, Aichi Human Serv Ctr, Kasugai, Aichi, Japan
[3] Yokohama City Univ, Dept Biochem, Grad Sch Med, Yokohama, Kanagawa, Japan
来源：
CLINICAL GENETICS | 2017年 / 92卷 / 05期
基金：
日本科学技术振兴机构;
关键词：
D O I：
10.1111/cge.13023
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：554 / 555
页数：2
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