DO HETEROZYGOUS LOSS-OF-FUNCTION VARIANTS IN MTOR CAUSE A TREATABLE NEURODEVELOPMENTAL PHENOTYPE?

被引：0
|
作者：
White, S. M. [1 ]
Bhoj, E. [2 ]
Dauber, A. [3 ]
Maystadt, I. [4 ]
Crespin, M. [4 ]
Stark, Z. [1 ]
Amor, D. [5 ]
Hakonarson, H. [2 ]
Li, D. [2 ]
机构：
[1] Victorian Clin Genet Serv, Melbourne, Vic, Australia
[2] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA
[3] Univ Cincinnati, Dept Pediat, Cincinnati, OH 45221 USA
[4] Inst Pathol & Genet, Ctr Genet Humaine, Gosselies, Belgium
[5] Royal Childrens Hosp, Melbourne, Vic, Australia
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2019年 / 179卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：707 / 708
页数：2
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