A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T; 6843G>C] causes a Coffin-Siris Syndrome

被引：4

作者：

Lee, Cha Gon ^{[1
]}

Ki, Chang-Seok ^{[2
]}

机构：

[1] Eulji Univ, Nowon Eulji Med Ctr, Dept Pediat, Seoul, South Korea

[2] GC Genome, Yongin, South Korea

来源：

ANNALS OF LABORATORY MEDICINE | 2021年 / 41卷 / 03期

关键词：

DIAGNOSTIC YIELD;

D O I：

10.3343/alm.2021.41.3.350

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

引用

页码：350 / 353

页数：4

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