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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...
Zapisane w:
| Wydane w: | BMC Med Genomics |
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| Główni autorzy: | , , , , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BioMed Central
2020
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| Hasła przedmiotowe: | |
| Dostęp 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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