Targeted/Exome Sequencing Identified Mutations in 55 Chinese Children Diagnosed with Noonan Syndrome and a Autosomal Recessive Form Associated With LZTR1 Variants

被引：0

作者：

Li, Xin ^{[1
]}

Yao, Ruen ^{[1
]}

Chen, Yao ^{[1
]}

Chang, Guoying ^{[1
]}

Ding, Yu ^{[1
]}

Li, Juan ^{[1
]}

Shen, Yiping ^{[2
]}

Wang, Xiumin ^{[1
]}

Wang, Jian ^{[1
]}

机构：

[1] Shanghai Childrens Med Ctr, Shanghai, Peoples R China

[2] Boston Childrens Hosp, Boston, MA USA

来源：

HORMONE RESEARCH IN PAEDIATRICS | 2018年 / 90卷

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

P2-P264

引用

页码：446 / 446

页数：1

共 37 条

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[32] TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect
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[37] Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin-Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing
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