A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China

被引：0
|
作者：
Ru-Lai Yang
Gu-Ling Qian
Ding-Wen Wu
Jing-Kun Miao
Xue Yang
Ben-Qing Wu
Ya-Qiong Yan
Hai-Bo Li
Xin-Mei Mao
Jun He
Huan Shen
Hui Zou
Shu-Yuan Xue
Xiao-Ze Li
Ting-Ting Niu
Rui Xiao
Zheng-Yan Zhao
机构：
[1] Children’s Hospital,National Clinical Research Center for Child Health
[2] Zhejiang University School of Medicine,Chongqing Health Center for Women and Children
[3] Neonatal Screening Center,The Central Laboratory of Birth Defects Prevention and Control
[4] Guiyang Maternal and Child Health Hospital,Medical Genetic Center
[5] University of the Chinese Academy of Science,undefined
[6] Shenzhen Hospital,undefined
[7] Shanxi Children’s Hospital Shanxi Maternal and Child Health Hospital,undefined
[8] Ningbo Women and Children’s Hospital,undefined
[9] Maternal and Child Health Hospital of Ningxia Hui Autonomous Region,undefined
[10] Changsha Maternal and Child Health Hospital,undefined
[11] Yunnan Maternal and Child Health Hospital,undefined
[12] Jinan Maternity and Child Care Hospital Affiliated to Shandong First Medical University,undefined
[13] Urumqi Maternal and Child Health Care Hospital,undefined
[14] Changzhi Maternal and Child Health Care Hospital,undefined
[15] Maternal and Child Health Care Hospital of Shandong Province,undefined
[16] National Engineering Laboratory for Key Technology of Birth Defect Control and Prevention,undefined
[17] Screening and Diagnostic R and D Center,undefined
来源：
World Journal of Pediatrics | 2023年 / 19卷
关键词：
Monogenic genetic diseases; Newborn screening; Next-generation sequencing; Monogenic genetic diseases; Regional features;
D O I：
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中图分类号：
学科分类号：
摘要：
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页码：663 / 673
页数：10
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