DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome

被引：10

作者：

Aminkeng, F. ^{[1
]}

机构：

[1] Canadian Pharmacogen Network Drug Safety, Dept Med Genet, Ctr Mol Med & Therapeut, Vancouver, BC, Canada

来源：

CLINICAL GENETICS | 2015年 / 88卷 / 06期

关键词：

D O I：

10.1111/cge.12681

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：532 / 532

页数：1

共 3 条

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[3] Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies [J].

Southgate, Laura ;

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Taylor, Edward J. ;

Collinson, Claire S. ;

Ruddy, Deborah ;

Snape, Katie M. ;

Dallapiccola, Bruno ;

Tolmie, John L. ;

Joss, Shelagh ;

Brancati, Francesco ;

Digilio, Maria Cristina ;

Graul-Neumann, Luitgard M. ;

Salviati, Leonardo ;

Coerdt, Wiltrud ;

Jacquemin, Emmanuel ;

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CIRCULATION-CARDIOVASCULAR GENETICS, 2015, 8 (04) :572-581

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