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

页码：1550 / 1551

页数：2

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