RARE CASE OF COFFIN-SIRIS SYNDROME CAUSED BY SOX4 MUTATION WITH NEW PHENOTYPIC FEATURES

被引：0
|
作者：
Lee, A. E. [1 ,2 ,3 ]
Friedman, J. [1 ,2 ,3 ]
Lenberg, J. [1 ,3 ]
Wigby, K. [1 ,2 ,3 ]
机构：
[1] Rady Childrens Hosp San Diego, San Diego, CA USA
[2] Univ Calif San Diego, La Jolla, CA 92093 USA
[3] Rady Childrens Inst Genom Med, San Diego, CA USA
来源：
JOURNAL OF INVESTIGATIVE MEDICINE | 2022年 / 70卷 / 01期
关键词：
D O I：
10.1136/jim-2022-WRMC.407
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
411
引用
收藏
页码：312 / 313
页数：2
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