Autor: Xin Chen
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Novel deep intronic variants in NTRK1 underlying congenital insensitivity to pain with anhidrosis
ObjectivesCongenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder caused by mutations in NTRK1 that is characterized by pain insensitivity, anhidrosis, and recurrent fever. While genetic testing is the gold standa…