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

• Главные авторы: Lulu Li (Автор), Chao Jia (Автор), Yue Tang (Автор), Yuanyuan Kong (Автор), Yaofang Xia (Автор), Li Ma (Автор)
• Формат: ‌
• Опубликовано: Frontiers Media S.A., 2021-03-01T00:00:00Z.
• Предметы: article
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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...