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

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) t...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:BMC Med Genomics
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2020
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7437939/
https://ncbi.nlm.nih.gov/pubmed/32807182
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-020-00764-3
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki