Deletion of filamin A in two female patients with periventricular nodular heterotopia

被引：5

作者：

Chardon, Jodi Warman ^{[1
]}

Mignot, Cyril ^{[2
]}

Aradhya, Swaroop ^{[3
]}

Keren, Boris ^{[2
]}

Afenjar, Alexandra ^{[2
]}

Kaminska, Anna ^{[4
]}

Beldjord, Cherif ^{[5
]}

Heron, Delphine ^{[2
]}

Boycott, Kym M. ^{[1
]}

机构：

[1] Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, Canada

[2] Grp Hosp Pitie Salpetriere, APHP, Dept Genet, F-75634 Paris, France

[3] GeneDx, Gaithersburg, MD USA

[4] Hop Necker Enfants Malad, APHP, Unite Clin Electrophysol, Paris, France

[5] Hop Cochin, APHP, Serv Biol Mol & Genet, F-75674 Paris, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2012年 / 158A卷 / 06期

基金：

加拿大健康研究院;

关键词：

DREIFUSS MUSCULAR-DYSTROPHY; CORTICAL DEVELOPMENT; CEREBRAL-CORTEX; A MUTATIONS; MALFORMATIONS; MIGRATION; IDENTIFICATION; DUPLICATION;

D O I：

10.1002/ajmg.a.35409

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1512 / 1516

页数：5

共 31 条

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