Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair

被引：21
|
作者：
Zambrano, Regina M. [1 ,2 ]
Marble, Michael [1 ,2 ]
Chalew, Stuart A. [2 ,3 ]
Lilje, Christian [2 ,4 ]
Vargas, Alfonso [2 ,3 ]
Lacassie, Yves [1 ,2 ]
机构：
[1] Louisiana State Univ, Hlth Sci Ctr, Sch Med, Div Genet,Dept Pediat, 200 Henry Clay Ave, New Orleans, LA 70112 USA
[2] Childrens Hosp, 200 Henry Clay Ave, New Orleans, LA 70118 USA
[3] Louisiana State Univ, Hlth Sci Ctr, Sch Med, Div Endocrinol,Dept Pediat, New Orleans, LA USA
[4] Louisiana State Univ, Hlth Sci Ctr, Sch Med, Div Cardiol,Dept Pediat, New Orleans, LA USA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2017年 / 173卷 / 02期
关键词：
MUTATIONS;
D O I：
10.1002/ajmg.a.38056
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：565 / 567
页数：3
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