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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Detaylı Bibliyografya
Yayımlandı:BMC Med Genomics
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2020
Konular:
Case Report
Online Erişim: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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