Lissencephaly with dysgenesis of the corpus callosum and congenital cataract due to a novel de novo variant of the DYNC1H1 gene

被引：0
|
作者：
Zich, Mikulas [1 ]
Seeman, Pavel [1 ,2 ,3 ]
Cerna, Sarka [1 ]
Cibulkova, Petra [4 ]
Kaduchova, Valentyna [4 ]
Lastuvkova, Jana [1 ]
机构：
[1] Masarykova Nemocnice Usti Nad Labem Oz, Krajska Zdravotni As, Dept Med Genet, Usti Nad Labem, Czech Republic
[2] Charles Univ Prague, Fac Med 2, Prague 5, Czech Republic
[3] Motol Univ Hosp, Dept Paediat Neurol, Prague 5, Czech Republic
[4] Univ Hosp Ostrava, Dept Mol & Clin Pathol & Med Genet, Ostrava, Czech Republic
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P13.041.C
引用
收藏
页码：1550 / 1551
页数：2
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