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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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Dettagli Bibliografici
Pubblicato in:BMC Med Genomics
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2020
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Accesso online: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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