Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report

• Main Authors: Andrés López-Cortés (Author), Ana Karina Zambrano (Author), Patricia Guevara-Ramírez (Author), Byron Albuja Echeverría (Author), Santiago Guerrero (Author), Eliana Cabascango (Author), Andy Pérez-Villa (Author), Isaac Armendáriz-Castillo (Author), Jennyfer M. García-Cárdenas (Author), Verónica Yumiceba (Author), Gabriela Pérez-M (Author), Paola E. Leone (Author), César Paz- (Author)
• Format: Book
• Published: BMC, 2020-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disorder characterized by insensitivity to pain, inability to sweat and intellectual disability. CIPA is caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene (...