Novel and Novel De Novo Mutations in NTRK1 Associated With Congenital Insensitivity to Pain With Anhidrosis

Abstract excerpt

Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare autosomal recessively inherited disorder. The main clinical features of the disorder consist of absence of reactions to noxious stimuli and inability to sweat under any conditions.In this case report, a 3-year-old Chinese boy diagnosed with CIPA presented with the core features of CIPA, including insensitivity to noxious stimuli,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Herbal Medicine Research Studies
• Share to Hereditary Neurological Disorders
• Share to Toxin Mechanisms and Immunotoxins