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Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi–Goutie’res syndrome
BACKGROUND: Familial chilblain lupus (FCL) is a rare, chronic form of cutaneous lupus erythematosus, which is characterized by painful bluish-red inflammatory cutaneous lesions in acral locations. Mutations in TREX1, SAMHD1 and STING have been described in FCL patients. Less than 10 TREX1 mutation p...
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| Publicado en: | Pediatr Rheumatol Online J |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BioMed Central
2020
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7158086/ https://ncbi.nlm.nih.gov/pubmed/32293470 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12969-020-00423-y |
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