Novel Gross Deletion Mutations in NTRK1 Gene Associated With Congenital Insensitivity to Pain With Anhidrosis

Frontiers in Pediatrics

Li Ma¹  Yaofang Xia¹  Chao Jia¹  Yue Tang²  Lulu Li²  Yuanyuan Kong² 

[1] Department of Neonatology, Hebei Provincial Children's Hospital, Shijiazhuang, China;Department of Newborn Screening Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, China;

关键词: Chinese families;    HSAN;    whole exome sequencing;    mutations;    CIPA;    NTRK1;   

DOI  :  10.3389/fped.2021.638190

来源: Frontiers

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