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

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

Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare inherited autosomal recessive disorder characterized by insensitivity to noxious stimuli, anhidrosis, recurrent fever, and intellectual disability. CIPA is mainly caused by mutations in the neurotrophic tyrosine kinase rec...

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Bibliographic Details
Main Authors: Lulu Li, Chao Jia, Yue Tang, Yuanyuan Kong, Yaofang Xia, Li Ma
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-03-01
Series:Frontiers in Pediatrics
Subjects:
Chinese families
HSAN
whole exome sequencing
mutations
CIPA
NTRK1
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.638190/full

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https://www.frontiersin.org/articles/10.3389/fped.2021.638190/full

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