A novel recurrent LIS1 splice site mutation in classic lissencephaly

被引：6
|
作者：
Philbert, Marion [1 ,2 ,3 ]
Maillard, Camille [1 ,2 ,3 ]
Cavallin, Mara [1 ,2 ,3 ]
Goldenberg, Alice [4 ,5 ]
Masson, Cecile [6 ]
Boddaert, Nathalie [7 ,8 ,9 ]
El Morjani, Adrienne [1 ,2 ,10 ]
Steffann, Julie [1 ,2 ,10 ]
Chelly, Jamel [11 ,12 ,13 ,14 ,15 ]
Gerard, Xavier [1 ,2 ,16 ]
Bahi-Buisson, Nadia [1 ,2 ,3 ,17 ]
机构：
[1] Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, France
[2] Paris Descartes Sorbonne Paris Cite Univ, UMR1163, Paris, France
[3] INSERM UMR 1163, Embryol & Genet Congenital Malformat, Paris, France
[4] Univ Rouen, CHU Rouen, Serv Genet, Ctr Normand Genom Med & Med Personnalisee, Rouen, France
[5] Univ Rouen, Ctr Normand Genom Med & Med Personnalisee, Inserm U1079, Rouen, France
[6] Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Plateforme Bioinformat, Paris, France
[7] Univ Paris 05, Hop Necker Enfants Malad, AP HP, Dept Pediat Radiol,PRES Sorbonne Paris Cite, Paris, France
[8] Image Imagine Inst Imagine, Brain Imaging Lab, INSERM U1000, Paris, France
[9] Image Imagine Inst Imagine, Brain Imaging Lab, UMR 1163, Paris, France
[10] Hop Necker Enfants Malad, Dept Genet, Paris, France
[11] Inst Genet & Biol Mol & Cellulaire, Illkirch Graffenstaden, France
[12] CNRS, Illkirch Graffenstaden, France
[13] INSERM, Illkirch Graffenstaden, France
[14] Univ Strasbourg, Strasbourg, France
[15] Hop Univ Strasbourg, Hop Civil Strasbourg, Serv Diagnost Genet, Strasbourg, France
[16] INSERM UMR 1163, Lab Genet Ophthalmol, Paris, France
[17] Univ Paris 05, Necker Enfants Malades Univ Hosp, AP HP, Pediat Neurol,PRES Sorbonne Paris Cite, Paris, France
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2017年 / 173卷 / 02期
关键词：
Lis1; splice site mutation; lissencephaly; SUBCORTICAL BAND HETEROTOPIA; MALFORMATION-SEVERITY; GENE; SPECTRUM; LOCATION; DISEASE;
D O I：
10.1002/ajmg.a.38041
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：561 / 564
页数：4
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