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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Case Report
Acesso em linha: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
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