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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Detalles Bibliográficos
Autores principales: Li, Lulu, Jia, Chao, Tang, Yue, Kong, Yuanyuan, Xia, Yaofang, Ma, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7969531/
https://www.ncbi.nlm.nih.gov/pubmed/33748046
http://dx.doi.org/10.3389/fped.2021.638190

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