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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7437939/
https://www.ncbi.nlm.nih.gov/pubmed/32807182
http://dx.doi.org/10.1186/s12920-020-00764-3

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