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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Dades bibliogràfiques
Publicat a:BMC Med Genomics
Autors principals: 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
Idioma:Inglês
Publicat: BioMed Central 2020
Matèries:
Case Report
Accés en línia: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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