Weaver syndrome and defective cortical development: A rare association

被引：19
作者：
Al-Salem, Ahmed [1 ,2 ]
Alshammari, Muneera J. [1 ,3 ,4 ]
Hassan, Hamdy [4 ,5 ]
Alazami, Anas M. [1 ]
Alkuraya, Fowzan S. [1 ,3 ,4 ,6 ]
机构：
[1] King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia
[2] King Abdul Aziz Med City, Dept Med, Riyadh, Saudi Arabia
[3] King Saud Univ, Dept Pediat, King Khalid Univ Hosp, Riyadh, Saudi Arabia
[4] King Saud Univ, Coll Med, Riyadh 11461, Saudi Arabia
[5] King Saud Univ, Dept Radiol, King Khalid Univ Hosp, Riyadh 11461, Saudi Arabia
[6] Alfaisal Univ, Dept Anat & Cell Biol, Coll Med, Riyadh, Saudi Arabia
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2013年 / 161A卷 / 01期
关键词：
weaver syndrome; pachygyria; polymicrogyria; EZH2; de novo; EZH2; MUTATIONS; SOTOS;
D O I：
10.1002/ajmg.a.35660
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：225 / 227
页数：3
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