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

页码：707 / 708

页数：2

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