Article
Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report.
BMC medical genomics - 17 Aug 2020
López-Cortés Andrés, Zambrano Ana Karina, Guevara-Ramírez Patricia, Echeverría Byron Albuja, Guerrero Santiago, Cabascango Eliana, Pérez-Villa Andy, Armendáriz-Castillo Isaac, García-Cárdenas Jennyfer M, Yumiceba Verónica, Pérez-M Gabriela, Leone Paola E, Paz-Y-Miño César
Abstract excerpt
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 (NTRK1) that encodes the high-affinity receptor of nerve growth factor (NGF). CASE PRESENTATION: Here, we present clinical...
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